id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
duchenne:28802771 | DMD and West syndrome. | [
"Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscul... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne Muscular Dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne Muscular Dystrophy (DMD)",
"muscular dystrophy",
"Duchenne Muscular Dystrophy",
"Duchenne Muscular Dystrophy",
"epilepsy",
"Duchenne Muscular Dystrophy",
"Duchenne Muscular Dystrophy",
"Duchenne Muscular Dystrophy",
"West syndrome",
"Duchenne Muscular Dystrophy"
] | [
"mutations in the dystrophin gene",
"multiple dystrophin isoforms expressed in brain"
] | [
"Central nervous system involvement",
"seizures",
"focal seizures",
"generalized tonic-clonic seizures",
"absences",
"epileptic spasms",
"hypsarrhythmia",
"seizure types"
] | null | null | [
"absence of full-length dystrophin protein"
] | null |
duchenne:28774370 | [Recurrent anorexia and pigmentation of skin for more than two months in an infant]. | [
"A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 -... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 2-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"complex glycerol kinase deficiency (cGKD)",
"cGKD",
"Xp21 contiguous gene syndrome",
"congenital adrenal hypoplasia (AHC)",
"Duchenne muscular dystrophy"
] | [
"pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1)"
] | [
"adrenal insufficiency",
"impaired liver function",
"mental retardation",
"decreased muscular strength",
"mental retardation",
"adrenal insufficiency"
] | [
"hydrocortisone, coenzyme Q10 and L-carnitine"
] | null | [
"hypertriglyceridemia",
"significantly elevated creatine kinase",
"electrolyte disturbance",
"serum cortisol levels returned to normal",
"serum creatine kinase, triglyceride and aminotransferase levels were progressively increased",
"hypertriglyceridemia"
] | null |
duchenne:28772036 | Implantation of a left ventricular assist device to provide long-term support for end-stage Duchenne muscular dystrophy-associated cardiomyopathy. | [
"A young man with Duchenne muscular dystrophy presented to the UT Southwestern Neuromuscular Cardiomyopathy Clinic with advanced heart failure. Despite maximal medical therapy, his cardiac function continued to decline requiring initiation of inotrope therapy. Given the patient's clinical deterioration, a left vent... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Duchenne muscular dystrophy",
"Neuromuscular Cardiomyopathy",
"Duchenne muscular dystrophy",
"medically refractory end-stage cardiomyopathy"
] | null | [
"advanced heart failure",
"cardiac function continued to decline",
"clinical deterioration",
"relatively unremarkable course"
] | [
"initiation of inotrope therapy",
"left ventricular assist device (LVAD) was implanted as destination therapy",
"tolerated the surgical implantation of the LVAD",
"-LVAD implantation",
"LVAD",
"permanent mechanical LVADs"
] | null | null | [
"Despite maximal medical therapy",
"without any significant complications",
"not disrupt the diaphragm and thus preserve the respiratory muscle strength"
] |
duchenne:28759390 | Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency. | [
"We present a 6-week-old male infant with persistent hyperbilirubinemia, hypertriglyceridemia, elevated creatine kinase levels, and transaminitis since the second week of life. When he developed hyperkalemia, clinical suspicion was raised for adrenal insufficiency despite hemodynamic stability. A full endocrine wor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 6-week-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"complex glycerol kinase deficiency (GKD)",
"complex disorder",
"Duchenne muscular dystrophy",
"GKD",
"adrenal hypoplasia congenita",
"congenital adrenal hyperplasia",
"cortisol-related endocrinopathies"
] | [
"Xp21 deletion syndrome",
"deletion of 3 contiguous genetic loci on the X chromosome"
] | [
"adrenal insufficiency",
"congenital adrenal hypoplasia",
"adrenal insufficiency",
"liver injury",
"cholestasis"
] | null | null | [
"persistent hyperbilirubinemia",
"hypertriglyceridemia",
"elevated creatine kinase levels",
"transaminitis",
"hyperkalemia",
"nearly absent adrenocorticotropic hormone",
"persistent hypertriglyceridemia (peak of 811 mg/dL)",
"elevated creatine kinase levels (>20 000 U/L)",
"corticotropin level",
"... | [
"despite hemodynamic stability"
] |
duchenne:32939432 | Sudden cardiac death of Duchenne muscular dystrophy with NT-proBNP in pericardial fluid as a useful biomarker for diagnosis of the cause of death: a case report. | [
"Duchenne muscular dystrophy (DMD) is one of the most common and severest muscular dystrophies. Although it can be a cause of death when associated with cardiac muscle and/or respiratory muscles, no cases of sudden deaths in the setting of undiagnosed DMD with cardiac involvement have been reported in the literatur... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"muscular dystrophies",
"DMD",
"DMD",
"early dilated cardiomyopathy (DCM)/dysfunction of the left ventricle",
"DMD"
] | null | [
"death",
"cardiac muscle and/or respiratory muscles",
"sudden deaths",
"cardiac involvement",
"cardiac failure",
"left ventricular dysfunction",
"sudden cardiac deaths",
"died",
"suddenly",
"muscles of the body were almost replaced by fatty and fibrotic tissues",
"heart was enlarged",
"dysfunc... | null | null | [
"N-terminal-proBNP (NT-proBNP)",
"Total absence of dystrophin",
"high level of NT-proBNP"
] | null |
duchenne:28618061 | Electrical storm in a patient with Duchenne muscular dystrophy cardiomyopathy triggered by abrupt β-blocker interruption. | [
"We present a case of a young man with Duchenne muscular dystrophy cardiomyopathy (DMDC) having an implantable cardioverter defibrillator for secondary prevention, who presented with electrical storm shortly after β-blocker interruption. The patient was stabilized and remained free of ventricular arrhythmias soon a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Duchenne muscular dystrophy cardiomyopathy (DMDC)",
"DMDC"
] | null | [
"electrical storm",
"excess diastolic Ca2+ leak from sarcoplasmic reticulum",
"ryanodine receptor dysfunction"
] | [
"implantable cardioverter defibrillator for secondary prevention",
"β-blocker interruption",
"reinitiating b-adrenoreceptor antagonists",
"sympathetic blockage"
] | null | null | [
"free of ventricular arrhythmias"
] |
duchenne:28576279 | [Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy]. | [
"Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne/Becker muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Duchenne/Becker muscular dystrophy",
"Becker muscular dystrophy",
"Becker muscular dystrophy",
"subclinical myopathies",
"Duchenne/Becker muscular dystrophy",
"MH"
] | null | [
"skeletal muscles",
"progressive muscle weakness",
"atypical anesthetic reactions following exposure to succinylcholine or halogenated agents",
"discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months",
"difficulty in walking on one's heels",
"myopathic sign (hands suppor... | [
"anesthesia",
"history of liver transplantation"
] | null | [
"hyperCKemia",
"chronic increase of serum creatine kinase levels - CK)",
"CK values of 7,779-29,040IU.L-1 (normal 174IU.L-1)",
"reduced dystrophin (20% of normal) for both antibodies (C and N-terminal)"
] | [
"The in vitro muscle contracture test in response to halothane and caffeine was normal"
] |
duchenne:28503609 | An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy. | [
"We present a case of an unusual triad in pediatric neurology: a currently 12-year-old boy with cerebral palsy and epilepsy who was later also diagnosed with Duchenne muscular dystrophy. We describe the clinical path that resulted in this exceptional diagnosis. This case report illustrates how different neurologica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a case of an unusual triad in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pediatric neurology\n <span style=\"font-size: 0.8em; font-weight... | [
"Duchenne muscular dystrophy",
"neurological disorders",
"Duchenne muscular dystrophy carrier"
] | null | [
"cerebral palsy",
"epilepsy",
"cerebral palsy",
"atypical clinical course",
"inexplicable laboratory values"
] | null | null | null | null |
duchenne:28459722 | Two Cases of Duchenne Muscular Dystrophy That Showed Different Reactions to Nerve Stimulation During Peripheral Nerve Block: A Case Report. | [
"In recent years, the technique of combined ultrasound and electrical stimulation-guided nerve block has been recommended. We present 2 patients with Duchenne muscular dystrophy who exhibited different muscle responses to nerve stimulation during the performance of peripheral nerve blocks for surgeries. Whereas a 2... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In recent years, the technique of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n combined ultrasound and electrical stimulation-guided nerve block\n <spa... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"expected muscle contraction to electrical nerve stimulation",
"severe disability"
] | [
"peripheral nerve blocks",
"surgeries"
] | null | null | [
"without severe disability",
"no muscle response"
] |
duchenne:28434908 | Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions. | [
"Females with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) mutations rarely exhibit clinical symptoms from childhood, although potential mechanisms for symptoms associated with DMD and BMD in females have been reported. We report the case of a female DMD patient with a clinical course indis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Females\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Duchenne muscular dystrophy (DMD)",
"Becker muscular dystrophy (BMD)",
"DMD",
"BMD",
"DMD",
"DMD",
"DMD"
] | [
"compound heterozygous contiguous exon deletions in the dystrophin gene",
"out-of-frame deletions of exons 48-50 and 51-53 occurring on separate alleles",
"demonstrated the accurate deletion region on each allele",
"compound heterozygous contiguous exon deletions in the dystrophin gene"
] | [
"clinical symptoms",
"clinical course indistinguishable from that of",
"Gowers' sign",
"calf muscle hypertrophy",
"lost ambulation"
] | null | null | [
"high serum creatine kinase level at 2 years"
] | null |
duchenne:28428530 | [Duchenne Muscle Dystrophy Caused Bronchial Obstruction]. | [
"Duchenne muscle dystrophy (DMD), X-linked recessive genetic disorder, causes a variety of complications including scoliosis. We report a case of bronchial obstruction and hemorrhage caused by scoliosis with DMD. A man in his forties having been hospitalized due to DMD since the age of 6, produced bloody sputum. A ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscle dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Duchenne muscle dystrophy (DMD)",
"scoliosis",
"DMD",
"DMD"
] | [
"X-linked recessive genetic disorder"
] | [
"scoliosis",
"bronchial obstruction",
"hemorrhage",
"bloody sputum",
"atelectasis in his right lower lung",
"scoliosis and thoracic deformity",
"muscle dystrophy",
"compression of a right main bronchus by the vertebra",
"bronchial obstruction",
"bleeding",
"the bleeding had stopped",
"severe b... | [
"high-risk surgery",
"bronchial stenting"
] | null | null | [
"without therapy"
] |
duchenne:28416915 | Hypokalemia-induced cardiac arrest in a Duchenne muscular dystrophy patient. | [
"Duchenne muscular dystrophy (DMD) is a progressive myopathic disorder, inherited as X-linked recessive traits, in which muscle weakness is the primary symptom. Correlation between DMD and hypokalemia is reported in only three case reports. Recent investigations have focused on the nutritional management of patient... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"progressive myopathic disorder",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD"
] | [
"inherited as X-linked recessive traits"
] | [
"muscle weakness",
"sudden cardiac arrest",
"lower respiratory tract infection",
"hypoxic encephalopathy",
"potentially lethal consequences"
] | [
"nutritional management",
"potassium intake",
"intravenous potassium chloride",
"prolonged hospitalization",
"discharged from the Intensive Care Unit (ICU) on mechanical ventilation",
"potassium supplements"
] | null | [
"hypokalemia",
"severe hypokalemia (K: 1.3 mEq/L)",
"Hypokalemia",
"Severe hypokalemia",
"potassium levels"
] | null |
duchenne:28353578 | Rocuronium-induced neuromuscular block and sugammadex in pediatric patient with duchenne muscular dystrophy: A case Report. | [
"Anesthetic management of patients with Duchenne muscular dystrophy (DMD) is complicated because these patients are more sensitive to nondepolarizing neuromuscular blocking agents (NMBAs) and are vulnerable to postoperative complications, such as postoperative residual curarization and respiratory failure. Sugammad... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Anesthetic management of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em;... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"postoperative complications",
"postoperative residual curarization",
"respiratory failure",
"delayed recovery was achieved"
] | [
"Sugammadex",
"reversal agent for aminosteroidal NMBAs",
"general anesthesia for a percutaneous nephrolithotomy",
"rocuronium bromide and sugammadex",
"reverse the deep neuromuscular block",
"Reversal of neuromuscular block",
"administration of 2 mg/kg of sugammadex",
"discharged to the postoperative ... | null | null | [
"nondepolarizing neuromuscular blocking agents (NMBAs)",
"no adverse events",
"recurarization or hypersensitivity to sugammadex"
] |
duchenne:28300461 | Evaluation of Serial Casting for Boys with Duchenne Muscular Dystrophy: A Case Report. | [
"To report the effects of below-knee serial casting in two boys with Duchenne muscular dystrophy who presented with well-preserved strength and calf shortening.",
"Bilateral below-knee serial casts were applied over two weeks with follow-up of daily stretching and wearing of customized night splints. Outcome meas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the effects of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n below-knee serial casting\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Duchenne muscular dystrophy"
] | null | [
"well-preserved strength",
"calf shortening",
"leg strength, motor function, endurance",
"spatio-temporal gait parameters",
"gains in muscle length"
] | [
"below-knee serial casting",
"Bilateral below-knee serial casts were applied over two weeks",
"follow-up of daily stretching and wearing of customized night splints",
"-casting",
"serial casting"
] | null | null | [
"No adverse effects on strength or motor function were observed over a 12-month follow-up period"
] |
duchenne:28216480 | Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician. | [
"Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.",
"Here, we repor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Turner syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Turner syndrome",
"chromosomal disorder",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Turner syndrome",
"Turner syndrome"
] | [
"X-linked recessive disorder",
"classical 45,X Turner syndrome",
"point mutation in the dystrophin gene (c.9055delG)",
"coexistence of an X-linked recessive disorder"
] | [
"distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples)",
"aortic coarctation",
"feet lymphedema",
"unusually early beginning of muscular dystrophy symptoms",
"infantile-onset motor developmental delay",
"intellectual disability",
"early calf muscular hypertrophy"... | null | null | null | null |
duchenne:28123647 | Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports. | [
"We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We discussed two cases of symptomatic \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Duchenne Muscular Dystrophy"
] | null | [
"classical phenotypic manifestation of the disease",
"progressive muscular weakness",
"progressive muscle weakness",
"impairment in walking and sleeping",
"obstructive sleep apnea syndrome",
"alveolar hypoventilation"
] | [
"noninvasive ventilatory support"
] | null | null | null |
duchenne:28117478 | Mouthpiece ventilation in Duchenne muscular dystrophy: a rescue strategy for noncompliant patients. | [
"To evaluate mouthpiece ventilation (MPV) in patients with Duchenne muscular dystrophy (DMD) who are noncompliant with noninvasive ventilation (NIV).",
"We evaluated four young patients with DMD who had previously refused to undergo NIV. Each patient was reassessed and encouraged to try MPV.",
"The four patient... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To evaluate \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mouthpiece ventilation (MPV)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"distrofia muscular de Duchenne (DMD)",
"VNI",
"tentar VB"
] | null | [
"fewer speech problems",
"less impact on the patient",
"skin breakdown",
"gastric distension",
"conjunctivitis",
"claustrophobia",
"menores problemas na fala",
"melhor aparência",
"risco de lesões na pele",
"distensão gástrica",
"conjuntivite",
"claustrofobia"
] | [
"mouthpiece ventilation (MPV)",
"MPV",
"MPV",
"compliant with NIV at home",
"MPV",
"NIV with any other type of interface",
"overnight NIV",
"agreed to use a nasal mask during the night",
"MPV",
"types of NIV",
"use of a mouthpiece interface",
"NIV",
"NIV",
"Using MPV during the daytime",
... | null | null | [
"noncompliant with noninvasive ventilation (NIV)",
"previously refused to undergo NIV",
"refuse to use other types of interfaces",
"ventilação não invasiva (VNI)"
] |
duchenne:28100912 | Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS. | [
"Next-generation sequencing (NGS) discloses nucleotide changes in the genome. Mutations at splicing regulatory elements are expected to cause splicing errors, such as exon skipping, cryptic splice site activation, partial exon loss or intron retention. In dystrophinopathy patients, prediction of splicing outcomes i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Next-generation sequencing (NGS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"dystrophinopathy",
"severe Duchenne",
"mild Becker muscular dystrophy"
] | [
"Next-generation sequencing (NGS)",
"nucleotide changes in the genome",
"Mutations at splicing regulatory elements",
"exon skipping",
"c.9361+1G>A mutation in the dystrophin gene",
"additional DNA variation of A>G at +117 bases in intron 64",
"Exon 64 skipping",
"larger flanking intronic domains"
] | [
"cryptic splice site activation",
"partial exon loss",
"intron retention",
"cryptic splice site activation",
"cryptic splice site activation was induced even in +117G when intron 64 was elongated to 272 nt and longer",
"cryptic splice site activation"
] | null | [
"Vietnamese"
] | null | [
"rather than exon skipping"
] |
duchenne:28099279 | New Survival Target for Duchenne Muscular Dystrophy. | [
"We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rar... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a patient with a typical phenotype and clinical history of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span s... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"particular point mutation of his dystrophin gene"
] | [
"preservation of quality of life"
] | [
"cardiopulmonary care",
"continuous noninvasive respiratory support",
"prolonged survival"
] | null | null | [
"absence of dilated cardiomyopathy"
] |
duchenne:28098058 | Repair of an inguinoscrotal hernia in a patient with Becker muscular dystrophy. | [
"Inguinal hernia repairs are routinely performed as outpatient procedures in most patients, whereas a few require admission due to clinical or social peculiarities. Muscular dystrophies are inherited disorders characterized by progressive muscle wasting and weakness. In case of surgery there is no definite recommen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Inguinal hernia repairs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Muscular dystrophies",
"Becker Muscular Dystrophy",
"Muscular dystrophies",
"Becker muscular dystrophy",
"muscular dystrophy"
] | [
"inherited disorders",
"inherited disorders"
] | [
"progressive muscle wasting",
"weakness",
"left-sided sizable inguinoscrotal hernia",
"repeat episodes of incarceration",
"extensive scrotal hernias"
] | [
"Inguinal hernia repairs",
"outpatient procedures",
"admission",
"surgery",
"general or regional anesthesia",
"elective mesh repair with suction drainage",
"selective spinal anesthesia",
"inguinal hernia repairs",
"suction drainage",
"surgery",
"general or regional anesthesia",
"elective mesh ... | null | null | null |
duchenne:27999675 | Mechanical insufflation-exsufflation for an individual with Duchenne muscular dystrophy and a lower respiratory infection. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive myopathy associated with progressive muscle weakness and wasting, loss of ambulation, respiratory insufficiency, weak cough, repeated respiratory infections, and ultimately death from respiratory failure in early adulthood. Mechanical insufflation-exsuffla... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"myopathy",
"neuromuscular weakness",
"DMD"
] | [
"X-linked recessive"
] | [
"progressive muscle weakness and wasting",
"loss of ambulation",
"respiratory insufficiency",
"weak cough",
"repeated respiratory infections",
"death",
"respiratory failure",
"severe lower respiratory infection",
"prevent further deterioration"
] | [
"Mechanical insufflation-exsufflation (MI-E) devices, such as the CoughAssist®",
"augment cough and help clear secretions",
"MI-E",
"physiotherapists",
"assist secretion clearance"
] | null | null | null |
duchenne:27955624 | A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene. | [
"Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"BMD",
"BMD",
"muscular dystrophy",
"BMD"
] | [
"genetic disorder of X-linked recessive inheritance",
"mutations of Dystrophin gene located at Xp21.2",
"duplication mutation in exons 37-44 in the Dystrophin gene"
] | [
"gradually progressive muscle weakness",
"Epilepsy",
"dysgnosia",
"epilepsy",
"dysgnosia",
"low intelligence quotient (IQ = 65)",
"slight myogenic changes"
] | null | null | [
"Serum creatine kinase level was markedly elevated (3665 U/L)"
] | null |
duchenne:27942159 | Usefulness of continuous actigraph monitoring in the assessment of the effect of corticosteroid treatment for Duchenne muscular dystrophy: a case report. | [
"[Purpose] This study evaluated the effect of corticosteroid treatment on the daily activity of a patient with Duchenne muscular dystrophy using an actigraph and examined whether this method produces the same results as the conventional motor-function evaluation methods. [Subject and Methods] A patient with 5 year-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[Purpose] This study evaluated the effect of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n corticosteroid treatment\n <span style=\"font-size: 0.8em; fo... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | null | [
"corticosteroid treatment",
"corticosteroid administration",
"corticosteroid administration"
] | null | null | null |
duchenne:27930565 | A case report with the peculiar concomitance of 2 different genetic syndromes. | [
"Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far.",
"An 8-year-old boy with DS had a histor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Down syndrome (DS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Down syndrome (DS)",
"chromosome disorder",
"coexistence of DS and dystrophinopathy",
"DS",
"Duchenne muscular dystrophy gene",
"Becker muscular dystrophy",
"DS",
"DS"
] | [
"splice-site mutation c.1812+1G>A in intron 15"
] | [
"affecting several body systems",
"sparing skeletal muscles",
"marked dystrophic changes",
"double trouble\""
] | [
"specific physiotherapy",
"multidisciplinary follow-up"
] | null | [
"increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L)"
] | [
"no delay in motor development",
"no muscle weakness or fatigability was detected",
"no mutations were found",
"avoided any deterioration in motor development and muscular wasting"
] |
duchenne:27922502 | The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. | [
"The classic approach to identifying and accurately diagnosing limb-girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing methodologies, several additional LGMDs have been molecularly character... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The classic approach to identifying and accurately diagnosing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n limb-girdle muscular dystrophies (LGMDs\n <s... | [
"limb-girdle muscular dystrophies (LGMDs",
"LGMDs",
"LGMDs",
"Duchenne muscular dystrophy",
"LGMDs",
"Duchenne muscular dystrophy",
"LGMDs",
", progressive, and degenerative neuromuscular disorders",
"LGMDs"
] | [
"hereditary"
] | [
"primary symptoms of shoulder girdle and pelvic girdle weakness"
] | [
"medication (based on the exon-skipping strategy)"
] | null | null | null |
duchenne:27752168 | [Magnetic resonance imaging of dystrophinopathy that mimics adductor enthesopathy]. | [
"To report thigh muscle magnetic resonance imaging (MRI) tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor enthesopathy.",
"Four boys, who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thigh muscle magnetic resonance imaging (MRI) tests\n <span style=\"font-size: 0.8em; font-weigh... | [
"dystrophinopathy",
"dystrophinopathy",
"Duchenne muscular dystrophy (DMD)",
"adductor enthesopathy",
"Dystrophinopathy",
"adductor enthesopathy",
"dystrophinopathy"
] | [
"out-frame deletion of exons in",
", involving either exons 45 or exons 49-52 deletion or exon 62 duplication",
"c.2665 C>T with nonsense mutation"
] | [
"edema changes in adductor longus muscles",
"mimics adductor enthesopathy",
"myalgia",
"muscle weakness",
"degree of fatty infiltration changes",
"mild to severe fatty infiltration changes",
"most severe fatty infiltration changes were in the long head of biceps femoris and adductor magnus",
"Obvious ... | null | [
"Chinese"
] | [
"elevated serum creatine kinase levels",
"creatine kinase levels were increased from 4 087 IU/L to 32 700 IU/L (Normal range: 75-175 IU/L)"
] | [
"without any abnormal signals in the attachment of the ligament",
"adductor longus muscles"
] |
duchenne:27616544 | Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript. | [
"We describe a 29-year-old patient who complained of left thigh muscle weakness since he was 23 and of moderate proximal weakness of both lower limbs with difficulty in climbing stairs and running since he was 27. Mild weakness of iliopsoas and quadriceps muscles and muscle atrophy of both the distal forearm and th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 29-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"severe Duchenne",
"mild form of Becker muscular dystrophy"
] | [
"novel c.1150-3C>G substitution in the DMD gene, affecting the intron 10 acceptor splice site and causing exon 11 skipping and an out-of-frame transcript",
"alternative splicing, of a transcript missing exon 11 as well"
] | [
"left thigh muscle weakness",
"moderate proximal weakness of both lower limbs",
"difficulty in climbing stairs and running",
"Mild weakness of iliopsoas and quadriceps muscles",
"muscle atrophy of both the distal forearm and thigh"
] | [
"dystrophin restoration"
] | null | [
"protein of normal molecular weight but in reduced amounts",
"low abundant full-length transcript",
"reduced amount of full length dystrophin",
"low amounts of dystrophin"
] | null |
duchenne:27612598 | Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report. | [
"We describe a case study of comorbid obsessive-compulsive disorder (OCD) in a nine-year-old boy with Duchenne muscular dystrophy (DMD). Patient history included persistent deficits in social communication and restrictive and repetitive patterns of behavior: a diagnosis of autism spectrum was formalized. Due to ser... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a case study of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n comorbid obsessive-compulsive disorder (OCD)\n <span style=\"font-size: 0.8em;... | [
"comorbid obsessive-compulsive disorder (OCD)",
"Duchenne muscular dystrophy (DMD)",
"autism spectrum",
"complex neuropsychiatric comorbidities",
"DMD"
] | null | [
"persistent deficits in social communication",
"restrictive and repetitive patterns of behavior",
"serious disruption on social functioning",
"negative development of the obsessive behavior",
"significant positive effect",
"in daily functioning",
"positive change in mood"
] | [
"pharmacotherapy",
"Fluoxetine 5 mg/day",
"gradually increased to 20 mg/day",
"fluoxetine"
] | null | null | [
"insensitivity of general behavior rating scales"
] |
duchenne:27595520 | Recurrent Fat Embolic Strokes in a Patient With Duchenne Muscular Dystrophy With Long Bone Fractures and a Patent Foramen Ovale. | [
"Individuals with Duchenne muscular dystrophy have an increased risk of long bone fractures. Such fractures are sometimes associated with brain dysfunction due to fat embolism syndrome, although this syndrome has seldom been documented in muscular dystrophy patients.",
"We describe a child with Duchenne muscular ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Individuals with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Duchenne muscular dystrophy",
"muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"long bone fractures",
"brain dysfunction",
"fat embolism syndrome",
"fat embolism syndrome",
"neurological dysfunction",
"multiple long bone fractures",
"recurrent cerebral infarctions",
"embolization through a patent foramen ovale",
"Fat embolism",
"ischemic cerebral infarction",
"additional i... | [
"patent foramen ovale was closed by an occluder device",
"cardiac catheterization laboratory",
"long bone fractures",
"close atrial level shunts"
] | null | null | [
"did not experience further infarctions"
] |
duchenne:27589974 | Effects of teriparatide on bone mineral density and quality of life in Duchenne muscular dystrophy related osteoporosis: a case report. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle disease characterized by secondary osteoporosis and increased fractures. We describe the case of a 20-year-old boy with DMD suffering from back pain due to multiple vertebral fractures who was treated with teriparatide. Improvement of bone density, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"osteoporosis",
"DMD",
"DMD",
"DMD related osteoporosis"
] | [
"X-linked recessive muscle disease",
"X-linked recessive muscle disease",
"dystrophin-deficient"
] | [
"secondary osteoporosis",
"increased fractures",
"back pain",
"multiple vertebral fractures",
"Improvement of bone density, pain, and quality of life",
"secondary osteoporosis",
"frequently occurring fractures",
"enhance bone mass",
"multiple vertebral fractures",
"back pain",
"intensity of back... | [
"teriparatide",
"bisphosphonates",
"Black bear parathyroid hormone",
"osteoanabolic treatment with once-daily recombinant human parathyroid hormone 1-34 (rhPTH 1-34, teriparatide)",
"18-month period of treatment with teriparatide"
] | null | [
"Bone formation and resorption markers (osteocalcin and C-telopeptide of type I collagen, respectively), as expected, increased within 6 months"
] | [
"no pain reported after 6 months at visual analog scale",
"no side effects"
] |
duchenne:27535714 | A Case of Refractory Heart Failure in Becker Muscular Dystrophy Improved With Corticosteroid Therapy. | [
"The patient was a 26 year-old man who was referred to our hospital in June 2011 because of severe heart failure. At age 24 years, he was found to have Becker muscular dystrophy. He received enalapril for cardiac dysfunction; however, he had worsening heart failure and was thus referred to our hospital. Echocardiog... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient was a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 26 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Becker muscular dystrophy",
"Duchenne muscular dystrophy",
"heart failure",
"Becker muscular dystrophy"
] | null | [
"severe heart failure",
"cardiac dysfunction",
"worsening heart failure",
"enlargement of the left ventricle, with a diastolic dimension of 77 mm",
"ejection fraction of 19%",
"ventricular tachycardia",
"hemoptysis",
"cardiomegaly",
"heart failure",
"improved the cardiomegaly",
"skeletal muscle ... | [
"enalapril",
"infusion of dobutamine and milrinone",
"amiodarone",
"was discontinued",
"corticosteroid pulse therapy was administered followed by oral prednisolone (PSL)",
"corticosteroid therapy",
"PSL dose was reduced gradually",
"bisoprolol was introduced",
"the catecholamine infusion was tapered... | null | [
"creatinine phosphokinase (CPK) level",
"improved",
"decreased the CPK level"
] | [
"Amiodarone",
"without exacerbation of the heart failure"
] |
duchenne:27515321 | Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26. | [
"The dystrophin gene is the one of the largest described in human beings and mutations associated to this gene are responsible for Duchenne or Becker muscular dystrophies.",
"Here we describe a nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G > C) carried by a 6-year-old boy who present... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n The dystrophin gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Duchenne or Becker muscular dystrophies"
] | [
"The dystrophin gene",
"mutations associated to this gene",
"nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G > C)",
"the first two nucleotides of the mutated intron 26 (AC) were not recognized by the splicing machinery and a new splicing site was created within exon 27, generating ... | [
"progressive proximal muscle weakness"
] | [
"antisense oligonucleotides (AON)-based therapy"
] | null | [
"elevated serum creatine kinase levels"
] | null |
duchenne:27417533 | A dynamic trinucleotide repeat (TNR) expansion in the DMD gene. | [
"Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Dystrophinopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Dystrophinopathies",
"myopathies",
"DMD",
"chronic myopathy",
"dystrophinopathy"
] | [
"allelic X-linked",
"large deletions/duplications or small lesions along the DMD gene",
"unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62",
"size of the GAA repeat is limited to 11-33 within the general population",
"Trinucleotide Repeat Exp... | null | null | null | null | null |
duchenne:27276190 | A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping. | [
"Sarcoglycanopathies (SGPs) constitute a subgroup of autosomal recessive limb girdle muscular dystrophies (LGMDs) which are caused by mutations in sarcoglycan (SGs) genes. SG proteins form a core complex consisting of α, β, γ and δ sarcoglycans which are encoded by SGCA, SGCB, SGCG and SGCD genes, respectively. Gen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sarcoglycanopathies (SGPs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Sarcoglycanopathies (SGPs)",
"autosomal recessive limb girdle muscular dystrophies (LGMDs)",
"muscular dystrophy",
"SGPs"
] | [
"mutations in sarcoglycan (SGs) genes",
"SGCA, SGCB, SGCG and SGCD genes",
"Genetic defect, in any of these SG proteins",
"autosomal recessive disorders",
"phenotype may segregate with SGCB gene",
"observing two crossing overs which occurred within the gene",
"mutation might be in the first two exons of... | null | null | null | [
"sarcoglycans"
] | [
"ruling out DMD (Duchenne muscular dystrophy)"
] |
duchenne:27225742 | [Application of spinal anesthesia in a pediatric patient with Duchenne's muscular dystrophy]. | [
"Duchenne's muscular dystrophy (DMD) is a neuromuscular disease with a progressive course. It is the most common and most severe muscular dystrophic disorder for which the application of anesthesia is critical, due to muscle weakness, and cardiac and pulmonary involvement. Successful application of spinal anesthesi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne's muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne's muscular dystrophy (DMD)",
"neuromuscular disease",
"muscular dystrophic disorder",
"DMD",
"DMD"
] | null | [
"muscle weakness",
"cardiac and pulmonary involvement"
] | [
"anesthesia",
"application of spinal anesthesia",
"bilateral inguinal hernia repair",
"spinal anesthesia",
"alternative to general anesthesia",
"general anesthesia"
] | null | null | null |
duchenne:27212861 | Unique pattern of late gadolinium enhancement on cardiac magnetic resonance imaging in Duchenne muscular dystrophy. | [
"Cardiomyopathy is an important cause of morbidity and mortality in patients with Duchenne muscular dystrophy (DMD). Early recognition of myocardial involvement and initiation of therapy are important for improved outcomes. Cardiac magnetic resonance imaging (CMR) is a sensitive tool in early detection of myocardia... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Cardiomyopathy",
"Duchenne muscular dystrophy (DMD)"
] | null | [
"myocardial involvement",
"myocardial fibrosis"
] | [
"initiation of therapy"
] | null | null | null |
duchenne:27105608 | Suspected acute myocardial infarction in a dystrophin-deficient dog. | [
"Golden retriever muscular dystrophy (GRMD) is a model for the genetically homologous human disease, Duchenne muscular dystrophy (DMD). Unlike the mildly affected mdx mouse, GRMD recapitulates the severe DMD phenotype. In addition to skeletal muscle involvement, DMD boys develop cardiomyopathy. While the cardiomyop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Golden retriever muscular dystrophy (GRMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Golden retriever muscular dystrophy (GRMD)",
"Duchenne muscular dystrophy (DMD)",
"mdx",
"GRMD",
"severe DMD",
"DMD",
"cardiomyopathy",
"cardiomyopathy",
"DMD",
"slowly progressive",
"GRMD",
"GRMD cardiomyopathy"
] | null | [
"skeletal muscle involvement",
"early episodes of acute cardiac decompensation",
"myocardial infarction",
"apparent analogous episode of myocardial infarction",
"acute signs of cardiac disease",
"tachyarrhythmia",
"supraventricular premature complexes",
"femoral pulse deficits",
"areas of hyperechoi... | null | null | [
"Serum cardiac biomarkers, cardiac-specific troponin I (cTnI) and N-terminal prohormone of B-type natriuretic peptide (NT-proBNP), were markedly increased",
"elevated cTnI"
] | null |
duchenne:27012109 | [Enteral nutrition ameliorated superior mesenteric artery syndrome in a patient with Duchenne muscular dystrophy]. | [
"The abdominal complications of Duchenne muscular dystrophy (DMD) include acute gastric dilatation, superior mesenteric artery (SMA) syndrome, ileus and constipation. We report herein a patient with DMD in whom SMA syndrome was successfully treated with enteral tube nutrition. The patient was a 16-year-old boy diag... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abdominal complications\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"SMA syndrome",
"DMD",
"SMA syndrome",
"SMA syndrome",
"SMA syndrome",
"SMA syndrome",
"SMA syndrome",
"DMD"
] | null | [
"abdominal complications",
"acute gastric dilatation",
"superior mesenteric artery (SMA) syndrome",
"ileus",
"constipation",
"Lordoscoliosis",
"respiratory impairment",
"respiratory impairment",
"body weight decreased from 40.3 kg to 33.4 kg",
"vomiting",
"hematemesis",
"body weight increased ... | [
"enteral tube nutrition",
"Steroid therapy",
"wheelchair-bound",
"Noninvasive mechanical ventilation",
"Enteral nutrition with a nasojejunal tube",
"for 5 months",
"Gastrostomy",
"conservative approach with enteral nutrition",
"Enteral nutrition"
] | null | null | [
"unable to walk",
"no recurrence was evident"
] |
duchenne:27009627 | Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. | [
"Few cases of dystrophinopathy show an asymptomatic phenotype with mutations in the 5' (exons 3-7) hot spot in the Duchenne muscular dystrophy (DMD) gene. Our patient showed increased serum creatine kinase levels at 12 years of age. A muscle biopsy at 15 years of age led to a diagnosis of Becker muscular dystrophy.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Few cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n dystrophinopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"dystrophinopathy",
"Becker muscular dystrophy",
"severe dystrophic"
] | [
"mutations in the 5' (exons 3-7) hot spot in the Duchenne muscular dystrophy (DMD) gene",
"deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene",
"in-frame deletion of exons 3-9",
"mutation in the 5' hot spot of the DMD gene"
] | [
"asymptomatic",
"slight decrease in cardiac function"
] | [
"β-blocker",
"multiexon skipping therapy targeting these exons"
] | null | [
"increased serum creatine kinase levels",
"dystrophin protein expression was ∼15% that of control level"
] | [
"no muscle involvement"
] |
duchenne:26985686 | Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype. | [
"Duchenne muscular dystrophy (DMD) is typically caused by disrupting the reading frame of the dystrophin gene: approximately 70%-80% of mutational events are represented by deletions or duplications of one or more exons in the dystrophin gene, and the remaining cases by subtle mutations, including point mutations, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"disrupting the reading frame of the dystrophin gene",
"deletions or duplications of one or more exons in the dystrophin gene",
"subtle mutations",
"point mutations, small indels, small inversions",
"complex small rearrangements",
"dystrophin gene",
"Deletions and duplications",
"detected in the DMD g... | null | null | null | null | [
"Neither duplication nor deletion was found in the DMD gene of the proband"
] |
duchenne:26956251 | Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy. | [
"We describe a case of hemi-atrophy in a young adult male, with a positive family history of three maternal uncles with Duchenne muscular dystrophy (DMD). The patient showed progressive weakness localized to the left side, an abnormal electromyography, and creatine kinase levels >3000 IU/l. Muscle biopsy showed bot... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hemi-atrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"DMD"
] | [
"An out-of-frame duplication variant in DMD, that is, c.(93+1_94-1)_(649+1_650-1)dup(p.?) resulting in duplication of exons 3-7 was inherited",
"dystrophin mRNA with and without the duplication",
"inherited the duplication variant",
"somatic recombination event removing the duplication and restoring dystrophi... | [
"hemi-atrophy",
"progressive weakness localized to the left side",
"abnormal electromyography"
] | null | null | [
"25% normal dystrophin protein levels in the muscle biopsy from the stronger right side"
] | [
"Sex chromosome aneuploidy was ruled out"
] |
duchenne:26924510 | Fat Emboli Syndrome in a Child with Duchenne Muscular Dystrophy After Minor Trauma. | [
"Fat embolism syndrome is the result of systemic manifestations of fat emboli in the microcirculation. Duchenne muscular dystrophy is a condition that increases the risk of fracture resulting in fat emboli.",
"We describe a patient with Duchenne muscular dystrophy who exhibited cardiopulmonary, neurologic, and op... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fat embolism syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Fat embolism syndrome",
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Fat embolism syndrome",
"Duchenne muscular dystrophy"
] | null | [
"systemic manifestations of fat emboli in the microcirculation",
"fracture",
"fat emboli",
"cardiopulmonary, neurologic, and ophthalmologic sequelae",
"fat emboli syndrome",
"minor trauma",
"minor trauma"
] | [
"aggressive resuscitation"
] | null | null | null |
duchenne:26851826 | Concordant utrophin upregulation in phenotypically discordant DMD/BMD brothers. | [
"Utrophin expression was investigated in two phenotypically discordant Duchenne muscular dystrophy half-brothers. The youngest was wheelchair-bound at age 9, while his mildly affected older brother was able to walk without difficulties at age 15. DNA analysis revealed an out-of-frame exon 2 duplication in the DMD g... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Utrophin expression\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"DMD",
"dystrophinopathies"
] | [
"out-of-frame exon 2 duplication in the DMD gene"
] | null | [
"wheelchair-bound"
] | null | [
"Utrophin expression",
"muscle dystrophin protein deficiency",
"utrophin amount was increased 3.4 and 3.3 fold respectively",
"increased 1.7 to 4.0 fold"
] | [
"able to walk without difficulties",
"no correlation between",
"utrophin up-regulation or sarcolemmal localization"
] |
duchenne:26849454 | Duane retraction syndrome in a patient with Duchenne muscular dystrophy. | [
"We describe the clinical features of a boy with bilateral Duane retraction syndrome (DRS), Duchenne muscular dystrophy (DMD), and other medical problems.",
"The child was followed-up for five years; his chart was reviewed, including the results of a muscle biopsy and genetic testing. Multiplex ligation-dependent... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the clinical features of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DRS",
"DMD",
"DMD"
] | [
"duplication of exons 3 and 4 of the dystrophin gene",
"genetic muscle abnormality",
"dystrophin mutations"
] | [
"bilateral Duane retraction syndrome (DRS)",
"bilateral DRS",
"developmental delay",
"mild mental retardation",
"seizures",
"progressive proximal weakness",
"bilateral DRS",
"neurologic features",
"CNS effects"
] | null | null | [
"highly elevated creatine kinase levels"
] | [
"otherwise normal ocular motility",
"negative dystrophin immunostaining"
] |
duchenne:26836830 | A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. | [
"Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy.",
"The authors report a 13-year-old boy, with severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Severe intellectual disability\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Duchenne muscular dystrophy",
"Becker muscular dystrophy",
"attention-deficit hyperactivity disorder",
"Dystrophinopathy",
"neurobehavioral disorder"
] | [
"aberrant splicing due to a c.10797+5G > A mutation in DMD"
] | [
"Severe intellectual disability",
"severe intellectual disability (Wechsler Intelligence Scales for Children-IV, Full Scale IQ < 0.1 percentile)",
"mild muscle weakness",
"dystrophic changes",
"predominantly cognitive impairment",
"unexplained cognitive or psychiatric disturbance"
] | null | null | [
"elevated serum creatine kinase",
"decreased staining with the C-terminal and mid-rod antibodies",
"essentially absent staining of the N-terminal immunostain"
] | null |
duchenne:26796035 | The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype. | [
"Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotyp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Substitutions, deletions and duplications in the dystrophin gene\n <span style=\"font-size: 0.8em; font-we... | [
"severe Duchenne muscular dystrophy (DMD)",
"mild Becker muscular dystrophy",
"DMD",
"GSΔ44)",
"DMD"
] | [
"Substitutions, deletions and duplications in the dystrophin gene",
"out-of-frame or in-frame transcripts",
"typical Duchenne mutation (exon 44 deletion)",
"partial restoration of an in-frame transcript",
"natural skipping of exon 45",
"lack of Celf2a, a splicing factor that interacts with exon 45 in the ... | [
"Becker-like phenotype"
] | [
"exon 45 skipping"
] | null | null | null |
duchenne:26740235 | Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. | [
"Duchene muscular dystrophy (DMD) is a progressive muscle wasting disease, caused by mutations in the dystrophin (DMD) on the X chromosome. One-third of patients are estimated to have de novo mutations. To provide in-depth genetic counseling, the comprehensive identification of mutations is mandatory. However, many... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchene muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchene muscular dystrophy (DMD)",
"progressive muscle wasting disease",
"DMD",
"sporadic DMD"
] | [
"mutations in the dystrophin (DMD) on the X chromosome",
"de novo mutations",
"nonsense mutation in DMD (p.Arg2095*)",
"pathogenic DMD mutation",
"low-level somatic mosaicism"
] | [
"died"
] | null | null | null | [
"detailed genetic diagnosis was not",
"no gross mutations found",
"Sanger sequencing was attempted but not conclusive",
"would have been overlooked using Sanger sequencing"
] |
duchenne:26721827 | Peripheral nerve blocks as the sole anesthetic technique in a patient with severe Duchenne muscular dystrophy. | [
"General anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are associated with high risks of complications, including rhabdomyolysis, malignant hyperthermia, hemodynamic instability, and postoperative mechanical ventilation. Here, we describe peripheral nerve blocks as a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n General anesthesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"severe Duchenne muscular dystrophy",
"severe Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"severe Duchenne muscular dystrophy",
"severe Duchenne muscular dystrophy"
] | null | [
"rhabdomyolysis",
"malignant hyperthermia",
"hemodynamic instability",
"symptoms associated with dyspnea",
"hemodynamic instability",
"respiratory depression"
] | [
"General anesthesia",
"central neuraxial blockades",
"postoperative mechanical ventilation",
"peripheral nerve blocks",
"anesthesia",
"surgery",
"reduction and internal fixation of a left distal femur fracture",
"intermittent ventilation",
"blocked the femoral nerve, lateral femoral cutaneous nerve,... | null | null | [
"no locomotive capability except for that of the finger flexors and toe extensors",
"no complications"
] |
duchenne:26612127 | Laparoscopic suture repair of idiopathic gastric perforation in Duchenne muscular dystrophy. | [
"We report herein an adolescent case of Duchenne muscular dystrophy (DMD) with idiopathic gastric perforation, in which emergency surgical repair was performed laparoscopically. A 14-year-old nonambulatory boy with DMD was brought to our emergency department with sudden onset of severe abdominal pain and distention... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report herein an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adolescent\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"idiopathic gastric perforation",
"sudden onset",
"severe abdominal pain",
"distention",
"free intraperitoneal air and intrapelvic effusion",
"focal perforation, 3-4 cm in diameter, on the upper gastric body near the diaphragm",
"stomach was also found to have a thin wall",
"gastric perforation"
] | [
"emergency surgical repair",
"laparoscopically",
"laparoscopic inspection with 4 trocars",
"An interrupted suture was placed using 4-0 PDS",
"abdomen was extensively irrigated",
"multiple J-Vac drains were left in situ",
"Total operation time was 90 min",
"Enteral feeding through a nasogastric tube",
... | null | null | [
"nonambulatory",
"without evidence of peptic ulcer disease or other abnormalities",
"no intraoperative complications"
] |
duchenne:26483924 | Restless leg syndrome exacerbated by amytriptiline in a patient with Duchenne Muscular Dystrophy. | [
"We report an unusual case of a Duchenne Muscular Dystrophy(DMD) patient who initiated a restless leg syndrome after the use of amytriptiline. The prescription and use of this medication for patients with persistent neuropathic pain is relatively common, especially for patients with DMD. Normally, this medication i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an unusual case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne Muscular Dystrophy(DMD)\n <span style=\"font-size: 0.8em; font-wei... | [
"Duchenne Muscular Dystrophy(DMD)",
"persistent neuropathic pain",
"DMD",
"DMD",
"chronic pain"
] | null | [
"restless leg syndrome",
"induction or intensification of a restless leg syndrome"
] | [
"amytriptiline",
"medication",
"amytriptiline"
] | null | null | null |
duchenne:26472954 | Novel Use of Tolvaptan in a Pediatric Patient With Congestive Heart Failure Due to Duchenne Muscular Dystrophy and Congenital Adrenal Hyperplasia. | [
"Successful management of hyponatremia in heart failure patients requires a multifaceted approach in order to preserve end-organ function. We describe the novel use of a selective vasopressin receptor antagonist, tolvaptan, for management of hyponatremia in a 17-year-old Caucasian male with severe Duchenne muscular... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Successful management of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hyponatremia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"hyponatremia",
"heart failure",
"hyponatremia",
"severe Duchenne muscular dystrophy",
"congestive heart failure (CHF)",
"congenital adrenal hyperplasia",
"CHF"
] | null | [
"end-organ function",
"recurrent admissions for hyponatremia secondary to adrenal crises"
] | [
"multifaceted approach",
"novel use of a selective vasopressin receptor antagonist, tolvaptan",
"initiation of tolvaptan and its extended administration"
] | [
"Caucasian"
] | null | [
"no further hyponatremia-related admissions",
"no adverse reactions"
] |
duchenne:26461240 | Obesity and Premature Loss of Mobility in Two Adolescents with Becker Muscular Dystrophy After HeartMate II Implantation. | [
"Weight gain is common after implantation of continuous-flow ventricular assist devices. Obesity can have a significant negative impact on mobility. For adolescents with Becker muscular dystrophy (BMD), for whom the ability to ambulate often persists into the mid-3rd decade, preservation of functional ability is cr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Weight gain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Becker muscular dystrophy (BMD)",
"BMD",
"endstage heart failure",
"BMD"
] | null | [
"Weight gain",
"Obesity",
"negative impact on mobility",
"preservation of functional ability",
"postoperative weight gain",
"accelerated loss of ambulation",
"driveline fracture",
"repeated falls",
"preservation of ambulation",
"skeletal muscle strength"
] | [
"implantation of continuous-flow ventricular assist devices",
"Thoratec HeartMate II left ventricular assist device (LVAD) implantation",
"LVADs",
"maintenance of device functionality",
"aggressive weight"
] | null | null | [
"ambulate"
] |
duchenne:26379389 | A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings. | [
"Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failure to manufacture dystrophin. Clinically, it is characterized by progressive muscle wasting eventually leading to pr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"musculoskeletal disorder",
"muscular dystrophy",
"DMD",
"Neurodegenerative Disease",
"Duchenne Muscular Dystrophy"
] | [
"recessive X-linked mediated"
] | [
"progressive muscle wasting",
"premature death"
] | null | null | null | [
"failure to manufacture dystrophin"
] |
duchenne:26358428 | Ethical Challenges in Early-Phase Pediatric Research for Life-Limiting Illness. | [
"Research with children is necessary to assure more effective treatments and potential cures of childhood illnesses. Ethical conduct of research requires minimizing the inherent risks of research, especially when it involves vulnerable populations such as children. Duchenne muscular dystrophy (DMD) is a progressive... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Research with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"illnesses",
"Duchenne muscular dystrophy (DMD)",
"progressive and fatal disease",
"DMD",
"DMD",
"DMD"
] | null | null | [
"gene therapies",
"early-phase \"gene therapy\" trials",
"gene therapy\""
] | null | null | null |
duchenne:26346252 | Cardiac resynchronization therapy in a young patient with Duchenne muscular dystrophy. | [
"A 32-year-old man with Duchenne muscular dystrophy (DMD) was admitted to the hospital because of worsening dyspnea and general fatigue. He had received medication therapy for cardiomyopathy with heart failure and home mechanical ventilation for respiratory failure. An electrocardiogram on admission showed intermit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 32-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy (DMD)",
"cardiomyopathy with heart failure",
"cardiomyopathy"
] | null | [
"worsening dyspnea",
"general fatigue",
"respiratory failure",
"intermittent third-degree atrioventricular block",
"global mild left ventricular systolic dysfunction with dyssynchrony (ejection fraction: 45%)",
"cardiac involvement"
] | [
"medication therapy",
"home mechanical ventilation",
"implantation of a cardiac resynchronization therapy-defibrillator",
"cardiac resynchronization therapy-defibrillator implantation"
] | null | [
"B-type natriuretic peptide level was improved"
] | [
"asymptomatic"
] |
duchenne:26328646 | Markedly High B-type Natriuretic Peptide Level in a Patient with Duchenne Muscular Dystrophy and Left Ventricular Non-Compaction. | [
"A boy with Duchenne muscular dystrophy was admitted to our hospital due to a transient loss of consciousness. Transthoracic echocardiography revealed left ventricular (LV) dilatation and diffuse hypokinesis of the LV wall. The LV wall was thin, and both non-compaction of the LV wall and marked thinning of the post... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n boy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Duchenne muscular dystrophy"
] | null | [
"transient loss of consciousness",
"left ventricular (LV) dilatation",
"diffuse hypokinesis of the LV wall",
"The LV wall was thin",
"non-compaction of the LV wall",
"marked thinning of the posterior LV wall resulting from a lesion",
"died",
"cardiac arrest",
"ventricular tachycardia",
"Severe hea... | null | null | [
"plasma B-type natriuretic peptide (BNP) level ultimately increased to 7,795 pg/mL",
"markedly high plasma BNP level"
] | null |
duchenne:26298609 | Treatable renal failure found in non-ambulatory Duchenne muscular dystrophy patients. | [
"Duchenne muscular dystrophy (DMD) is a progressive muscular disorder in which respiratory and heart failures are the main causes of death. Intensive intervention in respiratory and cardiac function has dramatically improved the prognosis; however, dysfunction in other multiple organs may emerge in the later stages... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"progressive muscular disorder",
"DMD",
"DMD",
"DMD"
] | null | [
"respiratory and heart failures",
"death",
"dysfunction in other multiple organs",
"renal failure",
"chronic heart failure",
"renal failure",
"reduced kidney perfusion",
"prerenal failure",
"dehydration signs"
] | [
"Intensive intervention in respiratory and cardiac function",
"non-ambulatory",
"decreased fluid intake",
"use of diuretics",
"increasing fluid intake",
"discontinuing or reducing the dose of diuretics",
"non-ambulatory"
] | null | [
"levels of serum cystatin C (CysC)",
"marker of kidney function unaffected by reduced muscle mass",
", were elevated",
"CysC levels"
] | null |
duchenne:26294044 | Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. | [
"X-linked dilated cardiomyopathy is a rare, cardio-specific form of dystrophinopathy allelic to Duchenne and Becker muscular dystrophy that results in heart failure without skeletal muscle weakness.",
"We describe a previously healthy 16-year-old boy who presented with palpitations progressing to heart failure wh... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n X-linked dilated cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"cardio-specific form of dystrophinopathy",
"allelic to Duchenne and Becker muscular dystrophy",
"X-linked dilated cardiomyopathy",
"X-linked dilated cardiomyopathy",
"dilated cardiomyopathy"
] | [
"X-linked dilated cardiomyopathy",
"novel duplication of exons 13-16 in the dystrophin gene",
"X-linked"
] | [
"heart failure",
"palpitations",
"heart failure",
"genotypic overlap with Duchenne and Becker muscular dystrophy"
] | null | null | null | [
"without skeletal muscle weakness",
"lack of progressive muscular weakness"
] |
duchenne:26148721 | A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis. | [
"Dystrophinopathies, either the severe Duchenne Muscular Dystrophy (DMD) or the milder Becker Muscular Dystrophy (BMD), are X-linked recessive disorders caused by mutations in the DMD gene. DMD is one of the longest human genes. Large deletions or duplications account for 60-80% of the mutations. Remaining anomalie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Dystrophinopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Dystrophinopathies",
"severe Duchenne Muscular Dystrophy (DMD)",
"milder Becker Muscular Dystrophy (BMD)",
"DMD",
"DMD",
"DMD"
] | [
"X-linked recessive disorders",
"mutations in the DMD gene",
"Large deletions or duplications",
"point mutations",
"small rearrangements",
"small deletion: NM_004006.2:c.2803+5_2803+8del was identified",
"intronic mutation",
"skipping of exon 21",
"NGS",
"intronic mutation"
] | null | null | null | null | null |
duchenne:26094594 | Contributions of Japanese patients to development of antisense therapy for DMD. | [
"Duchenne muscular dystrophy (DMD) is a fatal progressive muscle wasting disease considered untreatable since its first description in 1868. In 1987, the dystrophin gene responsible for DMD was cloned. This paved the way for the development of therapies. Antisense oligonucleotide (AO)-mediated exon skipping therapy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"fatal progressive muscle wasting disease",
"DMD",
"DMD",
"DMD",
"Becker muscular dystrophy",
"DMD",
"DMD",
"DMD"
] | [
"dystrophin gene responsible for DMD",
"small deletion within dystrophin exon 19",
"nonsense dystrophin mutation",
"skipping of the nonsense mutation-encoding exon",
"deletion of exon 20"
] | null | [
"Antisense oligonucleotide (AO)-mediated exon skipping therapy",
"AO-mediated exon skipping therapy",
"AOs against",
"AO-mediated exon skipping therapy",
"intravenous AO infusion",
"exon skipping therapy",
"AO-mediated exon skipping therapy",
"exon skipping therapy"
] | [
"Japanese",
"Japanese",
"Japanese",
"Japanese"
] | [
"induce exon skipping"
] | [
"untreatable",
"complicating exon 19 skipping",
"absence of any mutation at the consensus splice sites"
] |
duchenne:26091215 | Neuromuscular Scoliosis: Current Concepts. | [
"Scoliosis is a common deformity in neuromuscular disorders. This spinal deformity usually presents at an early age, rapidly progresses during growth, and continues to progress even after skeletal maturity. Neuromuscular scoliosis classically involves the entire thoracolumbar spine, often extending to the pelvis an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Scoliosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Scoliosis",
"neuromuscular disorders",
"Neuromuscular scoliosis",
"neuromuscular disorder",
"neuromuscular conditions",
"Duchenne muscular dystrophy",
"neuromuscular scoliosis"
] | null | [
"spinal deformity",
"involves the entire thoracolumbar spine",
"extending to the pelvis",
"pelvic obliquity",
"spinal curve",
"joint contractures",
"improvement in postoperative quality of life"
] | [
"steroids",
"bracing",
"nonoperative intervention",
"Preoperative optimization of medical comorbidities",
"Posterior segmental instrumentation",
"surgical management"
] | null | null | null |
duchenne:25996334 | [Duchenne muscular dystrophy: Case of atypical presentation and early diagnosis]. | [
"Duchenne muscular dystrophy is the most common form of muscular dystrophy, with an incidence of 1/3300 male live births and a prevalence rate in the total population of 3/100000 individuals. It is often hereditary (X-linked recessive) but sporadic cases are also frequent. The average age at diagnosis is 4.83 years... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"muscular dystrophy",
"myopathy"
] | [
"hereditary (X-linked recessive)",
"previously undescribed mutation"
] | [
"failure to thrive",
"malnutrition",
"respiratory problems",
"hypotonia",
"complete absence of dystrophin"
] | [
"ambulatory study"
] | null | [
"Hypertransaminasemia",
"elevated creatine kinase"
] | [
"without other data of hepatic involvement",
"The genetic study for Duchenne muscular dystrophy was negative",
"Mutations were not detected"
] |
duchenne:25917374 | Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. | [
"Xp21 continuous gene deletion syndrome is characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability and/or Duchenne muscular dystrophy (DMD). The clinical features depend on the size of the deletion, as well as on the number and the nature of the encom... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Xp21 continuous gene deletion syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"adrenal hypoplasia congenital (NROB1)",
"Duchenne muscular dystrophy (DMD)"
] | [
"Xp21 continuous gene deletion syndrome",
"overlapping Xp21 deletions"
] | [
"intellectual disability",
"intellectual disability",
"inconstant muscular symptoms"
] | null | null | [
"complex glycerol kinase deficiency (GK)"
] | null |
duchenne:25782128 | Hypoglycemia detected during cardiac arrest of a non-diabetic patient with heart failure. | [
"Hypoglycemia in non-diabetic patients with heart failure is a rare finding. It is thought to be caused by hepatic dysfunction secondary to chronic passive congestion, and reduced gluconeogenesis. In this report we present a 23-year-old man with a history of Duchenne muscular dystrophy hospitalized for decompensate... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hypoglycemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"heart failure",
"Duchenne muscular dystrophy",
"decompensated heart failure",
"heart failure"
] | null | [
"hepatic dysfunction",
"chronic passive congestion",
"clinical status deteriorated",
"sinus bradycardia",
"cardiac arrest"
] | [
"implantable cardioverter defibrillator shock",
"successful 5-minute cardiopulmonary resuscitation",
"Acute treatment of metabolic acidosis with hypoglycemia"
] | null | [
"Hypoglycemia",
"reduced gluconeogenesis",
"slightly elevated levels of hepatic enzymes",
"metabolic acidosis with a level of pH 7.04, bicarbonate 9.3",
"glucose of 22 mg/dl",
"unexplained hypoglycemia"
] | [
"non-diabetic",
"Despite the therapy for heart failure",
"non-diabetic"
] |
duchenne:25743350 | [Mitral valve replacement for a manifesting carrier of duchenne muscular dystrophy]. | [
"Duchenne muscular dystrophy (DMD) is an X-linked disease, but female carriers infrequently have some symptoms, who are called manifesting carriers. Here we report a case of a manifesting carrier of DMD with skeletal muscle weakness and cardiac abnormalities such as deterioration of cardiac function and left ventri... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | [
"X-linked disease"
] | [
"skeletal muscle weakness",
"cardiac abnormalities",
"deterioration of cardiac function",
"left ventricular dilatation",
"acute heart failure",
"severe mitral regurgitation"
] | [
"cardiac surgery",
"Surgical replacement of the mitral valve",
"general anesthesia with intravenous anesthetics and non-depolarizing muscle relaxant",
"Cardiac surgery",
"anesthetic management"
] | null | null | null |
duchenne:25714938 | Back pain in Duchenne muscular dystrophy: steroids are not always the culprit. | [
"We report on a child with Duchenne muscular dystrophy on prolonged corticosteroid treatment who presented with back pain and was subsequently found to have a monostotic fibrous dysplasia lesion of the spine. It is the intent of this case report to emphasize the need to maintain a high index of suspicion for other ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Duchenne muscular dystrophy",
"monostotic fibrous dysplasia lesion of the spine",
"Duchenne muscular dystrophy"
] | null | [
"back pain",
"back pain",
"vertebral compression fractures"
] | [
"prolonged corticosteroid treatment"
] | null | null | null |
duchenne:25628078 | Orthodontic treatment in a patient with unilateral open-bite and Becker muscular dystrophy. A 5-year follow-up. | [
"Becker muscular dystrophy is an X-chromosomal linked anomaly characterized by progressive muscle wear and weakness. This case report shows the orthodontic treatment of a Becker muscular dystrophy patient with unilateral open bite.",
"To correct patient's malocclusion, general anesthesia and orthognathic surgery ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Becker muscular dystrophy",
"Becker muscular dystrophy"
] | [
"X-chromosomal linked anomaly"
] | [
"progressive muscle wear",
"and weakness",
"unilateral open bite",
"open bite was corrected"
] | [
"orthodontic treatment",
"malocclusion",
"general anesthesia",
"orthognathic surgery",
"Conventional orthodontic treatment with intermaxillary elastics",
"muscular functional therapy",
"36 months",
"after a 5-year post-treatment retention period"
] | null | null | [
"were not considered as an option"
] |
duchenne:25592189 | Longitudinal Evaluation of Muscle Composition Using Magnetic Resonance in 4 Boys With Duchenne Muscular Dystrophy: Case Series. | [
"Duchenne muscular dystrophy (DMD), an inherited recessive X chromosome-linked disease, is the most severe childhood form of muscular dystrophy. Boys with DMD experience muscle loss, with infiltration of intramuscular fat into muscles.",
"This case series describes the progression of DMD in boys using magnetic re... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"muscular dystrophy",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD",
"DMD"
] | [
"inherited recessive X chromosome-linked disease"
] | [
"muscle loss",
"Transverse relaxation time (T2) values were elevated",
"Discrete changes in T2"
] | null | null | [
"lipid ratio increased"
] | [
"ambulation status",
"nonambulatory"
] |
duchenne:25557462 | Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. | [
"Clinical phenotypes of congenital myasthenic syndromes and primary mitochondrial disorders share significant overlap in their clinical presentations, leading to challenges in making the correct diagnosis. Next generation sequencing is transforming molecular diagnosis of inherited neuromuscular disorders by identif... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical phenotypes of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n congenital myasthenic syndromes\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"congenital myasthenic syndromes",
"primary mitochondrial disorders",
"inherited neuromuscular disorders",
"congenital myasthenic syndromes",
"congenital myasthenic syndromes"
] | [
"compound heterozygous mutations c.1228C > T (p.Arg410Trp) and c.679C > T (p.Arg227*) in collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ)",
"deletion of exon 52 in Dystrophin gene",
"additional homozygous mutation c.1511_1513delCTT (p.Pro504Argfs*183) in docking... | null | null | null | null | [
"initially suspected to have a mitochondrial myopathy"
] |
duchenne:25551817 | Regional anaesthesia in a Duchenne muscular dystrophy patient for upper extremity amputation. | [
"Duchenne muscular dystrophy (DMD) is the most common of the neuromuscular disorders. DMD is usually a challenge for the anaesthesiologist, with poor cardiac function, a high risk of developing rhabdomyolysis, and the probable life-threatening complications of general anaesthesia. To avoid possible morbidity associ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"neuromuscular disorders",
"DMD",
"DMD",
"massive rhabdomyosarcoma",
"DMD"
] | null | [
"poor cardiac function",
"rhabdomyolysis",
"life-threatening complications",
"morbidity associated with general anaesthesia",
"malignant hyperthermia-like reaction"
] | [
"general anaesthesia",
"supraclavicular blockade",
"left arm amputation",
"regional blockade",
"safer alternative to general anaesthesia",
"orthopedic procedures"
] | null | null | null |
duchenne:25537791 | Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. | [
"We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11 years; one died at age 14 years while awaiting heart transplant and the other underwent left ventricular assist device implantation at the sa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family in which two male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"severe dilated cardiomyopathy (DCM)",
"BMD"
] | [
"novel frameshift mutation in exon 27 of Duchenne muscular dystrophy (DMD) gene (c.3779_3785delCTTTGGAinsGG), in which seven base pairs are deleted and two are inserted",
"amino-acid substitution and premature termination (p.Thr1260Argfs*8)",
"mutation is more likely to alter splicing"
] | [
"progressive heart failure (HF)",
"died",
"progressive HF secondary to early-onset DCM",
"mild proximal muscle weakness",
"early-onset DCM",
"progressive lethal HF"
] | [
"awaiting heart transplant",
"left ventricular assist device implantation"
] | null | [
"markedly elevated serum creatine kinase level (>13 000 IU l(-1)) at 16 months"
] | [
"Despite relatively preserved skeletal muscular performance"
] |
duchenne:25444433 | Implantation of a left ventricular assist device as a destination therapy in Duchenne muscular dystrophy patients with end stage cardiac failure: management and lessons learned. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, characterized by progressive skeletal muscle weakness, loss of ambulation, and death secondary to cardiac or respiratory failure. End-stage dilated cardiomyopathy (DCM) is a frequent finding in DMD patients, they are rarely candidates for cardiac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"End-stage dilated cardiomyopathy (DCM)",
"DMD",
"DMD",
"DMD",
"DMD"
] | [
"X-linked recessive disorder"
] | [
"progressive skeletal muscle weakness",
"loss of ambulation",
"death",
"cardiac or respiratory failure",
"bleeding"
] | [
"cardiac transplantation",
"ventricular assist devices as a destination therapy (DT)",
"alternative to cardiac transplantation",
"Jarvik 2000 implantation",
"preoperative and postoperative non-invasive ventilation and cough machine cycles",
"surgical blood loss",
"use of tranexamic acid and prothrombin ... | null | null | [
"difficulty in weaning from mechanical ventilation",
"avoiding the use of nasogastric feeding tubes and nasal temperature probes"
] |
duchenne:25415397 | Massive reflux and aspiration after radiographically inserted gastrostomy tube placement. | [
"To the authors' knowledge, fatal postgastrostomy aspiration within 2 days of enteral nutrition has not been reported. The authors report consecutive cases of severe postgastrotomy aspiration with one being fatal for a 26-yr-old with Duchenne muscular dystrophy 2 days after initiation of gastrostomy feedings. Previ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To the authors' knowledge, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fatal postgastrostomy aspiration within 2 days of enteral nutrition\n <span sty... | [
"Duchenne muscular dystrophy"
] | null | [
"fatal postgastrostomy aspiration within 2 days of enteral nutrition",
"severe postgastrotomy aspiration",
"reflux",
"of airway clearance"
] | [
"initiation of gastrostomy feedings",
"radiographically inserted gastrostomies",
"gastrotomies",
"percutaneous endoscopic gastrostomies or open gastrostomies",
"gastrostomy tubes",
"Elimination of invasive airway tubes",
"gastrostomy feedings"
] | null | null | null |
duchenne:30546524 | Left ventricular noncompaction cardiomyopathy in Duchenne muscular dystrophy carriers. | [
"Duchenne and Becker muscular dystrophies are X-linked hereditary myopathies secondary to a dystrophinopathy resulting in progressive cardiomyopathy and heart failure. The most commonly associated cardiac involvements in these patients are dilated cardiomyopathy and conduction abnormalities; however, recent studies... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne and Becker muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Duchenne and Becker muscular dystrophies",
"hereditary myopathies",
"dystrophinopathy",
"Duchenne muscular dystrophy",
"cardiomyopathy",
"dystrophinopathy",
"Dystrophinopathy",
"cardiomyopathy",
"Duchenne muscular dystrophy"
] | [
"X-linked",
"heterozygous dystrophinopathy"
] | [
"progressive cardiomyopathy",
"heart failure",
"cardiac involvements",
"dilated cardiomyopathy",
"conduction abnormalities",
"left ventricular noncompaction cardiomyopathy",
"dilated form of left ventricular noncompaction cardiomyopathy",
"cardiac disease",
"cardiomyopathy in the form of left ventri... | null | null | null | null |
duchenne:25224064 | [Rare combination of dystrophinopathy and Klinefelter's syndrome in one patient]. | [
"To analyze clinical characteristics of a combination of dystrophinopathies and Klinefelter's syndrome (karyotype 47, XXY) in one patient.",
"The patient was diagnosed as Duchenne muscular dystrophy (DMD) and Klinefelter's syndrome in Beijing Children's Hospital in March, 2013. The clinical manifestations, physic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To analyze clinical characteristics of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n combination of dystrophinopathies\n <span style=\"font-size: 0.8e... | [
"combination of dystrophinopathies",
"Klinefelter's syndrome",
"Duchenne muscular dystrophy (DMD)",
"Klinefelter's syndrome",
"DMD",
"Becker muscular dystrophy (BMD)",
"combination of dystrophinopathies",
"and Klinefelter's syndrome"
] | [
"karyotype 47, XXY)",
"Deletions of exons 49-54 of the dystrophin gene",
"heterozygous deletion in his mother"
] | [
"walking disorder",
"developmental delay",
"facial dysmorphism",
"waddling gait",
"Gower's manoeuvre",
"enlarged calves",
"mild intellectual impairment",
"weakness was minimal in contrast to the proband",
"walking disorder",
"developmental delay",
"enlarged calves",
"Gower's manoeuvre",
"wad... | null | null | [
"Serum creatine kinase level was 21 040 U/L"
] | null |
duchenne:25199695 | Usefulness of sugammadex in a patient with Becker muscular dystrophy and dilated cardiomyopathy. | [
"A 54-year-old patient with Becker muscular dystrophy and dilated cardiomyopathy underwent laparoscopic cholecystectomy under total intravenous anesthesia. Muscle relaxation was induced by rocuronium (0.4 mg/kg body weight) under train-of-four (TOF) ratio monitoring. The TOF ratio was 0 at intubation, and 0.2 at th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 54-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Becker muscular dystrophy",
"dilated cardiomyopathy",
"Becker muscular dystrophy",
"dilated cardiomyopathy"
] | null | [
"TOF ratio was 0",
"0.2",
"Residual muscle relaxant activity",
"TOF ratio 1.0 at extubation)"
] | [
"laparoscopic cholecystectomy",
"total intravenous anesthesia",
"Muscle relaxation",
"rocuronium (0.4 mg/kg body weight)",
"reversed by sugammadex (2 mg/kg body weight)",
"sugammadex"
] | null | null | [
"without any hemodynamic adverse effects"
] |
duchenne:25196347 | Preimplantational genetic diagnosis and mutation detection in a family with duplication mutation of DMD gene. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disease caused by mutation in the DMD gene. A 38-year-old woman was referred to our hospital with her son who was diagnosed with DMD. Multiplex PCR failed to detect DMD mutations in the affected child. The female carrier underwent preimplanta... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"X-linked recessive neuromuscular disease",
"mutation in the DMD gene",
"the paternal allele was absent in E3",
"allele dropout for the STR-49 marker",
"allele dropout occurring at the SRY gene",
"Exon 2 duplication",
"duplication of exon 2",
"special primer at 3' of intron 1, very close to exon 2"
] | null | [
"preimplantation genetic diagnosis",
"in vitro fertilization",
"and a male baby were delivered at 38 gestational weeks"
] | null | null | [
"failed to detect DMD mutations in the affected child"
] |
duchenne:25193336 | When a mid-intronic variation of DMD gene creates an ESE site. | [
"Duchenne and Becker muscular dystrophy are X-linked allelic disorders caused by mutations in the DMD gene. The majority (65%) of these mutations are intragenic deletions/duplications that often lead to frameshift errors. Among the remaining ones, we find the mid-intronic mutations that usually create cryptic exons... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne",
"Becker muscular dystrophy",
"Becker muscular dystrophy"
] | [
"X-linked allelic disorders",
"mutations in the DMD gene",
"intragenic deletions/duplications",
"frameshift errors",
"mid-intronic mutations",
"create cryptic exons by activating potential splice sites",
"mid-intronic variation that creates two ESE sites in intron 26 of DMD gene resulting in the inserti... | null | null | null | [
"reduced amount of full-size dystrophin"
] | [
"Despite the out of frame character of this mutation"
] |
duchenne:25189677 | Be careful about abdominal discomfort in adult patients with muscular dystrophy. | [
"Muscular dystrophies are genetic muscular disease with disability. Heart failure is a classical complication mainly in Duchenne muscular dystrophy (DMD). We report 2 cases of severe acute heart failure revealed by abdominal discomfort in a patient with DMD and in a patient with gamma-sarcoglycanopathy."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Muscular dystrophies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Muscular dystrophies",
"genetic muscular disease",
"Duchenne muscular dystrophy (DMD)",
"DMD",
"gamma-sarcoglycanopathy"
] | null | [
"disability",
"Heart failure",
"severe acute heart failure",
"abdominal discomfort"
] | null | null | null | null |
duchenne:25161298 | Complications with utilization of positive-pressure devices in a young man with duchenne muscular dystrophy. | [
"Because of the progressive muscle weakness they experience, patients with Duchenne muscular dystrophy frequently utilize positive-pressure devices to maintain adequate bronchial hygiene and ventilation. This case illustrates the course of a 19-y-old male who presented with a perforated right tympanic membrane (TM)... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Because of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive muscle weakness\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Duchenne muscular dystrophy"
] | null | [
"progressive muscle weakness",
"perforated right tympanic membrane (TM)",
"Perforation of the TM",
"the TM to heal"
] | [
"positive-pressure devices",
"maintain adequate bronchial hygiene and ventilation",
"use of these devices",
"utilizing positive-pressure devices",
"balancing the reduction of pressures",
"maintaining adequate ventilation"
] | null | null | null |
duchenne:25099136 | Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. | [
"Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients. It is caused by heterozygous mutations in the transforming growth factor β1 (TGFβ1) believed to result in improper folding of the laten... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Camurati-Engelmann disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Camurati-Engelmann disease",
"Marfan syndrome",
"Duchenne muscular dystrophy",
"myopathies",
"Camurati-Engelmann disease",
"Camurati-Engelmann disease",
"Camurati-Engelmann disease"
] | [
"heterozygous mutations in the transforming growth factor β1 (TGFβ1)",
"improper folding of the latency-associated peptide domain of TGFβ1",
"c.652C > T [p.Arg218Cys])"
] | [
"hyperostosis of the long bones and the skull",
"muscle atrophy",
"severe limb pain",
"progressive joint contractures",
"TGFβ1 signaling",
"severe limb pain",
"difficulty in walking",
"intensity and frequency of limb pain decreased significantly",
"muscle strength improved"
] | [
"Losartan, an angiotensin II type 1 receptor antagonist",
"losartan",
"losartan",
"experimental treatment with losartan at a dosage of 50 mg/day, orally",
"treatment period of 18 months",
"resume walking and climbing stairs",
"TGFβ1 inhibition with losartan"
] | null | [
"increased or deregulated bioactivity",
"downregulate the expression of TGFβ type 1 and 2 receptors",
"anti-TGFβ1 activity"
] | [
"No obvious side effects"
] |
duchenne:25047667 | Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. | [
"Duchenne muscular dystrophy (DMD), a severe and lethal condition, is caused by the absence of muscle dystrophin. Therapeutic trials aiming at the amelioration of muscle function have been targeting the production of muscle dystrophin in affected Duchenne patients. However, how much dystrophin is required to rescue... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"Duchenne",
"DMD",
"golden retriever muscular dystrophy (GRMD)"
] | [
"nonsense mutations in the DMD gene",
"Three reported polymorphisms, respectively in genes LTBP4, SPP1 and ACTN3"
] | [
"amelioration of muscle function",
"milder course",
"unexpectedly mild phenotype",
"deleterious effect",
"functional large muscle"
] | null | null | [
"absence of muscle dystrophin",
"production of muscle dystrophin",
"dystrophin deficiency"
] | [
"total absence of muscle dystrophin",
"excluded as possible DMD genetic modifiers",
"absent muscle dystrophin",
"without dystrophin"
] |
duchenne:25046452 | Xp21/A translocation: a rarely considered genetic cause for manifesting carriers of duchenne muscular dystrophy. | [
"Clinically manifesting carriers of Duchenne muscular dystrophy (DMD) are rare among the pediatric population. A standardized diagnostic procedure in supposed DMD carriers entails performing a Multiplex Ligation-dependent Probe Amplification analysis of the DMD gene first, then taking a muscle biopsy to confirm red... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinically manifesting carriers of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; fon... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD",
"DMD"
] | [
"balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with breakpoint on the X-chromosome within an intron of the DMD gene",
"The inactivation of the nonderivative X-chromosome was found to be in a nonrandom pattern",
"functionally balanced karyotype"
] | [
"myalgia",
"cardiomyopathy",
"dystrophic pattern",
"mild mental retardation"
] | null | null | [
"reduced dystrophin levels",
"high-elevated creatine kinase",
"nearly absent expression of dystrophin"
] | [
"could not be confirmed by molecular genetic procedures"
] |
duchenne:24996370 | A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy. | [
"Becker muscular dystrophy (BMD) is a rare cause of dilated cardiomyopathy (DCM). We present a 23-year-old patient with BMD and early-onset DCM in whom cardiovascular magnetic resonance showed extensive myocardial late gadolinium enhancement and previously unreported findings of subepicardial fat infiltration in th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Becker muscular dystrophy (BMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Becker muscular dystrophy (BMD)",
"dilated cardiomyopathy (DCM)",
"BMD",
"early-onset DCM",
"early-onset DCM",
"BMD"
] | [
"rare mutation of dystrophin gene",
"new genetic predisposition"
] | [
"extensive myocardial late gadolinium enhancement"
] | null | null | null | null |
duchenne:24970711 | The Targon PH(®) nail for distal femoral fracture fixation in disabled children. A report of three cases. | [
"Recommendations for distal femoral fracture treatment in children with neuromuscular disease are various, including conservative, plating, nailing, and ESIN. All methods have disadvantages. Retrograde femoral intramedullary nailing using a statically interlocked Targon PH nail was performed in three cases. A right... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recommendations for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n distal femoral fracture treatment\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"distal femoral fracture treatment",
"neuromuscular disease",
"distal femoral shaft fractures"
] | null | [
"osteopenia",
"small bone dimensions",
"muscle dystrophy",
"primary stability",
"Bone healing occurred"
] | [
"conservative",
"plating",
"nailing",
"ESIN",
"Retrograde femoral intramedullary nailing using a statically interlocked Targon PH nail",
"right nail was used for a right femur",
"A short nail",
"supracondylar fractures",
"long nail",
"Closed reduction",
"immediate rehabilitation",
"Retrograde ... | null | null | [
"no intraoperative or postoperative complications",
"No deterioration of functional status or range of motion",
"no peri-implant fractures or hardware removal need"
] |
duchenne:24871807 | A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. | [
"Duchenne muscular dystrophy (DMD), a progressive muscle-wasting disease, is mostly caused by exon deletion mutations in the DMD gene. The reading frame rule explains that out-of-frame deletions lead to muscle dystrophin deficiency in DMD. In outliers to this rule, deletion junction sequences have never previously ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"progressive muscle-wasting disease",
"DMD",
"dystrophinopathy"
] | [
"exon deletion mutations in the DMD gene",
"out-of-frame deletions",
"single exon 45 deletion in the patient's DMD gene",
"out-of-frame mutation",
"major normally spliced product with exon 45 deletion and an additional in-frame product with deletion of both exons 44 and 45",
"upstream exon 44 skipping",
... | [
"weak dystrophin signals in his muscle"
] | [
"antisense oligonucleotides directed against the"
] | [
"Japanese"
] | [
"muscle dystrophin deficiency",
"dystrophin expression"
] | null |
duchenne:24859582 | C7-T1 anterior closing wedge bone-disc-bone osteotomy for the treatment of cervical hyperlordosis in muscular dystrophy: a new technique for correction of a rare deformity. | [
"A new surgical technique of cervical closing wedge osteotomy to correct an extension deformity of the cervical spine in patients with muscular dystrophy presenting clinically with debilitating hyperlordosis is described, and 3 cases are reported.",
"To describe a new surgical technique with emphasis on the clini... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A new \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n surgical technique of cervical closing wedge osteotomy to correct an extension deformity of the cervica... | [
"muscular dystrophy",
"muscular dystrophy in the cervical spine",
"Becker muscular dystrophy"
] | null | [
"debilitating hyperlordosis",
"spinopelvic parameters",
"severe flexion deformities",
"cervical hyperlordosis",
"upward deviation of forward gaze",
"gaze angles and both sitting and standing postures of the patients markedly improved",
"documented fusion at the osteotomy sites",
"significant acute cli... | [
"surgical technique of cervical closing wedge osteotomy to correct an extension deformity of the cervical spine",
"cervical osteotomy essentially",
"opening wedge (extension osteotomy)",
"C7-T1 closing wedge osteotomy",
"correct hyperextension deformity",
"Anterior closing wedge (bone-disc-bone) osteotomy... | null | null | [
"free of complaints"
] |
duchenne:24858336 | Fecal Transplant for Treatment of Toxic Megacolon Associated With Clostridium Difficile Colitis in a Patient With Duchenne Muscular Dystrophy. | [
"Clostridium difficile (C diff) colitis infection is the most common cause of nosocomial infectious diarrhea and the prevalence is increasing worldwide. Toxic megacolon is a severe complication of C diff colitis associated with high mortality. Gastrointestinal (GI) comorbidity and impaired smooth muscle contraction... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Clostridium difficile (C diff) colitis infection\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Clostridium difficile (C diff) colitis infection",
"nosocomial infectious diarrhea",
"Toxic megacolon",
"C diff colitis",
"C diff-associated toxic megacolon",
"fulminant C diff colitis with toxic megacolon",
"Duchenne muscular dystrophy (DMD)",
"C diff colitis",
"DMD",
"severe C diff infection",
... | null | [
"Gastrointestinal (GI) comorbidity",
"impaired smooth muscle contraction",
"impairment of GI tract",
"toxic megacolon",
"recovery of GI function",
"successful resolution of the C diff symptoms"
] | [
"intensive care unit",
"surgery",
"relieving the pressure from toxic megacolon",
"fecal microbiota transplantation through colonoscopy"
] | null | null | null |
duchenne:24832398 | What can we learn from assisted bicycle training in a girl with dystrophinopathy? A case study. | [
"In this case study, a 9-year-old ambulatory girl with dystrophinopathy due to a mosaic translocation mutation participated in dynamic training. Because the role of exercise is unclear in both boys and girls with dystrophinopathy, a recently developed assisted bicycle training regimen was evaluated for its feasibil... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this case study, a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"dystrophinopathy",
"dystrophinopathy",
"dystrophinopathy"
] | [
"mosaic translocation mutation"
] | [
"Motor Function Measure and the Assisted 6-Minute Cycling Test results remained stable",
"Slight improvements in quantitative muscle ultrasound intensity",
"less fatty infiltration in the muscles"
] | [
"dynamic training",
"exercise",
"assisted bicycle training regimen",
"trained at home, first 15 minutes with her legs and then 15 minutes with her arms, 5 times a week, for 24 weeks",
"training",
"physical training"
] | null | [
"low levels of dystrophin"
] | [
"no physical deterioration"
] |
duchenne:24802669 | Severe metabolic acidosis in adult patients with Duchenne muscular dystrophy. | [
"Duchenne muscular dystrophy (DMD) leads to progressive paresis, respiratory failure and premature death. Long-term positive pressure ventilation can improve quality of life and survival, but previously unrecognized complications may arise. We analyzed the characteristics of severe metabolic acidosis occurring in 8... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"chronic constipation",
"Metabolic acidosis",
"DMD"
] | null | [
"progressive paresis",
"respiratory failure",
"premature death",
"severely ill",
"dyspneic",
"abdominal discomfort"
] | [
"Long-term positive pressure ventilation",
"on positive pressure ventilation",
"administration of fluids and nutrition",
"regulation of bowel movements",
"treatment with antibiotics",
"subsequent administration of fluids, nutrition and antibiotics",
"regulation of bowel movements"
] | null | [
"severe metabolic acidosis",
"Metabolic acidosis with a high anion gap"
] | [
"reduced intake of fluids and food",
"normal anion gap"
] |
duchenne:24715988 | Sugammadex and reversal of neuromuscular block in adult patient with duchenne muscular dystrophy. | [
"Duchenne's muscular dystrophy (DMD) is the most common and severe form of myopathy. Patients with DMD are more sensitive to sedative, anesthetic, and neuromuscular blocking agents which may result in intraoperative and early postoperative cardiovascular and respiratory complications, as well as prolonged recovery ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne's muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Duchenne's muscular dystrophy (DMD)",
"myopathy",
"DMD"
] | null | [
"intraoperative and early postoperative cardiovascular and respiratory complications",
"prolonged recovery from anesthesia",
"antagonize the neuromuscular block",
"rapid recovery"
] | [
"sedative, anesthetic, and neuromuscular blocking agents",
"cholecystectomy",
"general anesthesia",
"induced our anesthesia",
"oxygen, propofol, fentanyl, and rocuronium bromide",
"Maintenance was done by fentanyl, rocuronium bromide, sevoflurane, and O2",
"sugammadex"
] | null | null | null |
duchenne:24711886 | Autologous bone marrow mononuclear cell transplantation in Duchenne muscular dystrophy - a case report. | [
"Male, 9 FINAL DIAGNOSIS: Duchenne muscular dystrophy Symptoms: Hyporeflexia • hypotonia • weaknes of lower limbs",
"- Clinical Procedure: - Specialty: Neurology.",
"Congenital defects/diseases.",
"Duchenne muscular dystrophy (DMD) is a fatal, genetic, progressive, degenerating muscle disorder. Current treatm... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-... | [
"Duchenne muscular dystrophy",
"Congenital defects/diseases",
"Duchenne muscular dystrophy (DMD)",
"fatal, genetic, progressive, degenerating muscle disorder",
"DMD",
"DMD"
] | null | [
"Symptoms",
"Hyporeflexia",
"hypotonia",
"myogenic, neurogenic",
"Brooke-Vignos score was 10",
"gradual progressive improvement",
"muscle strength",
"fine motor movements",
"Brooke-Vignos score",
"functional independence measure score",
"development of new normal motor unit potentials of the vas... | [
"Neurology",
"cellular therapy",
"serial autologous bone marrow mononuclear cell transplantations",
"multidisciplinary rehabilitation",
"wheelchair-bound",
"ambulation with assistive devices",
"transplantation",
"cellular therapy"
] | null | [
"dystrophin expression"
] | [
"palliative",
"no increase in fatty infiltration"
] |
duchenne:24577720 | Postanesthetic death in a cat with myopathy. | [
"There are few reports of naturally occurring muscular dystrophy in domestic animals. Herein, we describe a case of muscular dystrophy in a 4-year-old neutered male American domestic shorthair cat that died unexpectedly following anesthesia for an elective surgical procedure. Macroscopic muscular hypertrophy and hi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are few reports of naturally occurring \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n muscular dystrophy\n <span style=\"font-size: 0.8em; font-wei... | [
"muscular dystrophy",
"muscular dystrophy",
"muscular dystrophy",
"Duchenne muscular dystrophy",
"dystrophin-deficient",
"muscular dystrophy",
"cardiomyopathy"
] | null | [
"died",
"Macroscopic muscular hypertrophy",
"histologic evidence of myofiber size variation",
"mineralization",
"Anesthetic deaths",
"perianesthetic death"
] | [
"anesthesia",
"elective surgical procedure"
] | [
"American domestic shorthair"
] | [
"complete absence of dystrophin protein in Western blot",
"reduced levels of dystrophin-associated proteins"
] | null |
duchenne:24577373 | Implantation of the HeartMate II and HeartWare left ventricular assist devices in patients with duchenne muscular dystrophy: lessons learned from the first applications. | [
"Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder affecting 1 in 3,500 males, characterized by progressive skeletal muscle weakness and death secondary to cardiac or respiratory failure in the 2nd or 3rd decade. Being a progressive disease, patients are rarely candidates for cardiac transplantati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Duchenne muscular dystrophy (DMD)",
"dilated cardiomyopathy (DCM)",
"DMD",
"end-stage DCM",
"DMD"
] | [
"X-linked recessive disorder"
] | [
"progressive skeletal muscle weakness",
"death",
"cardiac or respiratory failure",
"death",
"alleviating heart failure symptoms",
"improving cardiac output",
"resolution of the symptoms of heart failure",
"improve their quality of life"
] | [
"cardiac transplantation",
"Implantation of left ventricular assist device (LVAD)",
"implantation of HeartMate II device",
"HeartWare device",
"LVAD implantations"
] | [
"North America"
] | null | null |
duchenne:27927381 | Balloon Kyphoplasty for Refractory Vertebral Compression Fractures in a Growing Child With Duchenne Muscular Dystrophy With Five-Year Follow-Up: Case Report and Review of Literature. | [
"Presentation of previously unreported results and 5-year follow-up of balloon kyphoplasty used to treat an 8-year-old patient with refractory vertebral compression fractures resulting from 3 years of corticosteroid treatment for Duchenne muscular dystrophy.",
"Long-term corticosteroid treatment in patients with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Presentation of previously unreported results and 5-year follow-up of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n balloon kyphoplasty\n <span style=\"... | [
"Duchenne muscular dystrophy",
"DMD",
"Duchenne muscular dystrophy"
] | null | [
"refractory vertebral compression fractures",
"improve muscle strength",
"prolong ambulation",
"lower the prevalence of scoliosis",
"osteoporosis",
"vertebral fractures",
"refractory vertebral compression fractures at T11, L1, and L3",
"immediate pain relief",
"The height of the treated vertebrae re... | [
"balloon kyphoplasty",
"3 years of corticosteroid treatment",
"Long-term corticosteroid treatment",
"received corticosteroid treatment for 3 years",
"Balloon kyphoplasty was performed at the 3 vertebral bodies",
"the procedure",
"effective analgesia",
"balloon kyphoplasty"
] | null | null | [
"without further collapse",
"did not affect the growth of the treated vertebrae or the patient's overall growth",
"no effect on the growth of the treated vertebrae"
] |
duchenne:24530477 | Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. | [
"Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common autosomal recessiv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fukuyama-type congenital muscular dystrophy (FCMD\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Fukuyama-type congenital muscular dystrophy (FCMD",
"FCMD",
"muscular dystrophy",
"Duchenne muscular dystrophy",
"FCMD"
] | [
"autosomal recessive disorder",
"autosomal recessive diseases",
"mutation in the fukutin gene",
"fukutin mutations",
"fukutin mutations"
] | [
"severe muscular dystrophy",
"brain malformations",
"generalized weakness",
"pseudohypertrophy of calf muscles",
"progressive joint contractures",
"severe scoliosis",
"myopathic electrodiagnostic changes",
"brain MRI with cobblestone complex",
"primary microcephaly"
] | null | [
"Japanese",
"Japan",
"Egyptian"
] | [
"elevated serum creatine kinase level"
] | null |
duchenne:24529507 | Muscular dystrophy in a dog resembling human becker muscular dystrophy. | [
"A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked variability in myofibre size, replacement of muscle with mat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 3-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"muscular dystrophy",
"congenital canine muscular dystrophy",
"Becker muscular dystrophy"
] | null | [
"clinical signs",
"progressive exercise intolerance",
"bilateral elbow extension",
"rigidity of the forelimbs",
"hindlimb flexion",
"kyphosis"
] | null | [
"Labrador retriever"
] | [
"markedly reduced labelling with monoclonal antibodies specific for the rod domain and the carboxy-terminal of dystrophin",
"truncated dystrophin protein of approximately 135 kDa"
] | [
"expression of β-sarcoglycan, γ-sarcoglycan and β-dystroglycan was normal"
] |
duchenne:24488829 | Muscle disease. | [
"On the basis of strong research evidence, Duchenne muscular dystrophy (DMD), the most common severe childhood form of muscular dystrophy, is an X-linked recessive disorder caused by out-of-frame mutations of the dystrophin gene. Thus, it is classified asa dystrophinopathy. The disease onset is before age 5 years. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">On the basis of strong research evidence, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8... | [
"Duchenne muscular dystrophy (DMD)",
"severe childhood form of muscular dystrophy",
"dystrophinopathy",
"DMD",
"DMD",
"DMD",
"DMD",
"acquired muscle disorders"
] | [
"X-linked recessive disorder",
"out-of-frame mutations of the dystrophin gene",
"genetic"
] | [
"progressive symmetrical limb-girdle muscle weakness",
"cardiomyopathy",
"congestive heart failure",
"Progressive scoliosis",
"respiratory in sufficiency",
"Respiratory failure",
"cardiomyopathy",
"death",
"independent walking from a few months to 2 years",
"cardiac abnormalities",
"muscle weakn... | [
"wheelchair dependent",
"wheelchair dependency",
"prednisone at 0.75 mg/kg daily (maximum dose, 40 mg/d) or deflazacort at 0.9 mg/kg daily (maximum dose, 39 mg/d), a derivative of prednisolone",
", as a single morning dose",
"treatment with angiotensin-converting enzyme inhibitors, b-blockers, and diuretics... | null | [
"increased serum creatine kinase levels"
] | null |
duchenne:24472441 | Co-occurring Duchenne muscular dystrophy and hypertrophic cardiomyopathy in an adult with atypical cardiac phenotype. | [
"We present the case of a 29-year-old man with mutation-positive Duchenne muscular dystrophy and mutation-positive hypertrophic cardiomyopathy. His cardiac phenotype has characteristics of both disorders; he manifests sub-epicardial left ventricular free wall late gadolinium enhancement that is consistent with Duch... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 29-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Duchenne muscular dystrophy",
"hypertrophic cardiomyopathy"
] | [
"mutation-positive",
"mutation-positive"
] | [
"cardiac phenotype has characteristics of both disorders",
"sub-epicardial left ventricular free wall late gadolinium enhancement that is consistent with Duchenne cardiomyopathy",
"asymmetric ventricular septal hypertrophy",
"hyperdynamic left ventricular systolic function",
"septal mid-myocardial late gado... | null | null | null | null |
duchenne:27858662 | Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping. | [
"Duchenne muscular dystrophy has a severe disease course, though variability exists. Case reports suggest a milder disease course of patients amenable to exon 44 skipping. In this study, we analyzed this and show that age at wheelchair dependence in patients with a dystrophin deletion requiring exon 44 skipping is ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Duchenne muscular dystrophy",
"Duchenne"
] | [
"dystrophin deletion requiring exon 44 skipping",
"deletion skippable by exon 45, 51 and 53",
"spontaneous exon 44 skipping",
"deletion flanking exon 44"
] | null | [
"exon 44 skipping"
] | null | null | null |
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