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:3723154 | Cytogenetic analysis and muscle differentiation in a girl with severe muscular dystrophy. | [
"The uncommon case is described of a girl severely affected with Duchenne muscular dystrophy. Cytogenetic analysis revealed no numerical or structural abnormalities of the X-chromosome in any of the cells examined (leucocytes and myoblasts). No abnormality in morphology, growth pattern or differentiation was observ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The uncommon case is described 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 girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Duchenne muscular dystrophy"
] | null | null | null | null | null | [
"no numerical or structural abnormalities of the X-chromosome in any of the cells examined (leucocytes and myoblasts)",
"No abnormality in morphology, growth pattern or differentiation was observed in the dystrophic muscle cultures"
] |
duchenne:3721503 | Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry. | [
"We report two male cousins with Duchenne muscular dystrophy (DMD) in whom cytogenetic studies have shown a small interstitial deletion at Xp21. The lesion is readily detectable in patients and carriers by flow cytometry which indicates that approximately 6000 kb of DNA are deleted in each case. The DNA markers OTC... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two \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: 0.3... | [
"DMD",
"chronic granulomatous disease",
"retinitis pigmentosa",
"McLeod syndrome"
] | [
"small interstitial deletion at Xp21",
"approximately 6000 kb of DNA are deleted",
"The DNA markers OTC, C7, and B24 are present in the deleted X chromosome but 87-8, 87-1, and 754 are absent",
"familial DMD",
"Xp21",
"de novo Xp21 deletion",
"amount of DNA deleted from the X"
] | [
"profound mental handicap",
"only mildly retarded"
] | null | null | null | null |
duchenne:3714817 | Results of manual resistance exercise on a manifesting carrier of Duchenne muscular dystrophy. A case report. | [
"This case report is about a manifesting carrier of Duchenne muscular dystrophy who participated in a program of maximal concentric-eccentric manual resistance exercise three days each week for 12 weeks. As a consequence, she achieved mean strength increases exceeding 28% bilaterally. She also ceased falling, which... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case report is about a manifesting carrier 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 style=\"font-size: ... | [
"Duchenne muscular dystrophy"
] | null | [
"mean strength increases exceeding 28% bilaterally",
"ceased falling"
] | [
"participated in a program of maximal concentric-eccentric manual resistance exercise three days each week for 12 weeks",
"exercise program"
] | null | null | null |
duchenne:3698449 | Duchenne muscular dystrophy in a 46 XY female. | [
"The most common muscular dystrophy, Duchenne muscular dystrophy (DMD), is an X-linked disorder that ordinarily has full clinical expression only in males. Reports of typical clinical features in females are rare but have occurred with a phenotypically identical autosomal recessive muscular dystrophy as well as in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most common \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-weight: bold; line-height: 1; bo... | [
"muscular dystrophy",
"Duchenne muscular dystrophy (DMD)",
"autosomal recessive muscular dystrophy",
"Turner syndrome"
] | [
"X-linked disorder",
"X-chromosome abnormalities",
"full expression of DMD",
"46 XY karyotype",
"expression of the DMD gene"
] | null | null | null | null | null |
duchenne:3712394 | Duchenne muscular dystrophy in a female with a translocation involving Xp21. | [
"A female with Duchenne muscular dystrophy, diagnosed at the age of 3 years 8 months, is reported. Chromosome studies revealed an X;autosome reciprocal translocation t(X;5) (p21.2;q31.2). With the BrdU-Hoechst 33258-Giemsa technique, there was nonrandom preferential inactivation of the normal X. Our patient is the ... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"X;autosome reciprocal translocation t(X;5) (p21.2;q31.2)",
"X;autosome translocation",
"breakpoint in the X chromosome is in band p21 at or near the site of the DMD gene"
] | null | null | null | null | null |
duchenne:2869305 | Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. | [
"In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT reveale... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 studies of the X chromosomes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Duchenne muscular dystrophy"
] | [
"deletion at Xp21 affecting a number of closely linked disease-specific gene loci"
] | [
"adrenal hypoplasia",
"mental retardation"
] | null | null | [
"glycerol kinase deficiency"
] | [
"did not reveal any numerical or structural abnormality"
] |
duchenne:3955863 | Clinical and genetic studies of muscular dystrophy in young girls. | [
"During the years 1971-81, we treated 7 girls with clinical features suggestive of Duchenne dystrophy. Muscle weakness developed at 1.5 or at 5-8 years and progressed rapidly. Two girls were in wheel-chairs in their teens. Muscle atrophy began in the proximal parts of the lower extremities and pseudohypertrophy of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">During the years 1971-81, we treated 7 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girls\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Duchenne dystrophy"
] | [
"Sex-linked recessive inheritance",
"carriers of autosomal recessive type",
"autosomal recessive inheritance"
] | [
"Muscle weakness",
"Muscle atrophy began in the proximal parts of the lower extremities",
"pseudohypertrophy of the calf",
"moderate to marked myopathic pattern",
"Mental retardation (IQ 37-73)",
"myopathic patterns on EMG",
"slight muscle weakness",
"prominent pseudohypertrophy of the calf"
] | [
"in wheel-chairs"
] | null | [
"Serum creatine phosphokinase (CPK) activity was moderately to highly elevated",
"elevated levels of CPK",
"elevated levels of CPK"
] | [
"Chromosomal studies showed normal finding",
"mild myopathic symptoms"
] |
duchenne:3942856 | Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. | [
"A new type of progressive muscular dystrophy, autosomal recessive distal muscular dystrophy, is described, based on observations on 17 cases (8 males and 9 females) in 8 families, including an autopsied case. The disease developed in young adults. Muscle weakness and atrophy were most marked in the distal parts of... | [
"<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 type of progressive muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"type of progressive muscular dystrophy",
"autosomal recessive distal muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"heterozygotes"
] | [
"Muscle weakness and atrophy were most marked in the distal parts of the legs, especially in the gastrocnemius and soleus muscles",
"spread to the thighs and gluteal muscles",
"Early impairment of standing on tip-toe",
"retention of the ability to stand on the heels",
", standing up and walking",
"The for... | null | null | [
"Serum creatine kinase activity was characteristically increased up to 100-fold",
"markedly increased"
] | [
"Difficulty in climbing stairs",
"confinement to bed",
"the small hand muscles were spared",
"nerve conduction was normal",
"No lesions were found in the brain, spinal cord or peripheral nerves"
] |
duchenne:3003318 | Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. | [
"We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay. His mother also has this deletion in an X chromosome. Fr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 interstitial deletion in the short arm of the X chromosome\n <span style=\"font-size: 0.8em; ... | [
"Duchenne muscular dystrophy"
] | [
"interstitial deletion in the short arm of the X chromosome",
"human glycerol kinase locus and the human X-linked adrenal hypoplasia locus are in the Xp21 band"
] | [
"intermittent hypoglycemia",
"spasticity",
"psychomotor retardation",
"growth delay"
] | null | null | [
"glycerol kinase deficiency",
"adrenal insufficiency"
] | null |
duchenne:3826795 | [Heart arrest during general anesthesia in a child with unrecognized Duchenne's dystrophy]. | [
"A three-year old child was anaesthetized by halothane. Cardiac arrest occurred soon after the injection of suxamethonium. Signs of rhabdomyolysis associated with hyperkalemia were present. The diagnosis of Duchenne muscular dystrophy was obtained afterwards."
] | [
"<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 three-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Duchenne muscular dystrophy"
] | null | [
"Cardiac arrest",
"Signs of rhabdomyolysis"
] | [
"anaesthetized by halothane",
"injection of suxamethonium"
] | null | [
"hyperkalemia"
] | null |
duchenne:3826553 | Clinical features in a girl with Duchenne muscular dystrophy with an X-autosome translocation; (X;4)(p21;q26). | [
"A female with Duchenne muscular dystrophy (DMD) and an X/4 translocation is reported. Her clinical signs, laboratory data and muscle pathology are compatible with those of typical DMD. She also has a ASD, type II, with some kind of cardiomyopathy. Detailed cytogenetic analyses by means of high resolution banding a... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"ASD, type II",
"DMD"
] | [
"X/4 translocation",
"the exchange point was located in band p21 of the X chromosome",
"localization of the DMD gene within it",
"X/autosome translocation",
"heterozygous",
"X/autosome translocation",
"normal X chromosomes replicate early"
] | [
"laboratory data",
"muscle pathology",
"cardiomyopathy"
] | null | null | null | null |
duchenne:3776359 | [Progressive muscular dystrophy of the Duchenne type]. | [
"A case of sudden death is reported that occurred as a result of Duchenne type progressive muscular dystrophy with extreme myogenic changes. These changes consisted of extensive muscular lipomatous transformation, typical of the advanced stage of the disease. The heart showed myocardial fibrosis, the respiratory sy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 sudden death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Duchenne type progressive muscular dystrophy"
] | null | [
"sudden death",
"extreme myogenic changes",
"extensive muscular lipomatous transformation",
"heart",
"myocardial fibrosis",
"respiratory system acute tracheobronchitis",
"early signs of bronchopneumonia",
"of the changes in the musculature",
"sudden death"
] | null | null | null | null |
duchenne:3766905 | Progressive muscular dystrophy with congenital adrenal hypoplasia: an unusual autopsy case. | [
"A 3 1/2-year-old child with progressive muscular dystrophy (PMD) and congenital adrenal hypoplasia (CAH) is described. Symptoms and signs of adrenocortical insufficiency appeared shortly after birth. Despite corticosteroid therapy, the muscular weakness and elevated CK level continued. A diagnosis of Duchenne musc... | [
"<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 1/2-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"progressive muscular dystrophy (PMD)",
"congenital adrenal hypoplasia (CAH)",
"Duchenne muscular dystrophy",
"combination of cytomegalic type CAH and PMD"
] | [
"small deletion of X-chromosome"
] | [
"Symptoms and signs of adrenocortical insufficiency",
"muscular weakness"
] | null | null | [
"elevated CK level"
] | [
"Despite corticosteroid therapy"
] |
duchenne:4051713 | Accidental death associated with motorized wheelchair use: a case report. | [
"Motorized wheelchairs provide independence for individuals with a wide variety of severely disabling conditions. The benefits of powered mobility are widely appreciated. In this case report, one potential risk associated with motorized wheelchairs is illustrated by the accidental death of a young man with Duchenne... | [
"<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 Motorized wheelchairs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Duchenne type muscular dystrophy"
] | null | [
"accidental death"
] | [
"Motorized wheelchairs",
"independence",
"powered mobility",
"motorized wheelchairs"
] | null | null | null |
duchenne:4045497 | Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy. | [
"Four enzyme activities related to glucose metabolism, i.e. those of glucose-6-phosphate dehydrogenase (G6PDH; EC 1.1.1.49), lactic dehydrogenase (LDH; EC 1.1.1.27), pyruvate dehydrogenase complex (PDC) and citrate synthase (CS; EC 4.1.3.7) were estimated in posterior root ganglion cells (PRGCs) of the spinal cord ... | [
"<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 Four enzyme activities related to glucose metabolism\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"olivopontocerebellar atrophy (OPCA)",
"amyotrophic lateral sclerosis (ALS)",
"Duchenne muscular dystrophy (DMD)",
"ALS",
"DMD",
"OPCA"
] | null | null | null | null | [
"Four enzyme activities related to glucose metabolism",
"those of glucose-6-phosphate dehydrogenase (G6PDH; EC 1.1.1.49), lactic dehydrogenase (LDH; EC 1.1.1.27), pyruvate dehydrogenase complex (PDC) and citrate synthase (CS; EC 4.1.3.7)",
"PDC activity was significantly reduced",
"LDH activity tended to be l... | [
"the enzyme activities examined were within normal ranges"
] |
duchenne:4042397 | Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. | [
"Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of 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 Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness\n ... | [
"muscular dystrophy",
"severe progressive muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"autosomal recessive inheritance"
] | [
"mild facial weakness",
"pseudohypertrophy of the calves"
] | [
"confined to wheelchairs"
] | null | [
"Serum CK activities exceeded upper normal limit by 70 to 85-fold"
] | [
"neither cardiomyopathy nor mental retardation",
"normal karyotype",
"the muscle biopsy was normal"
] |
duchenne:4016022 | The psychosocial impact of a progressive physical handicap and terminal illness (Duchenne muscular dystrophy) on adolescents and their families. | [
"This paper reports in narrative style on a sample of 13-16-year-old Duchenne muscular dystrophy adolescents in a residential setting in the UK. The terminally ill dystrophic boys' physical handicaps were noticed at about five years of age. In-depth interviews were conducted with parents, while projective assessmen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This paper reports in narrative style on a sample 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 13-16-year-old\n <span style=\"font-size: 0.8em; font... | [
"Duchenne muscular dystrophy",
"terminally ill dystrophic boys",
"Duchenne",
"Duchenne"
] | null | [
"physical handicaps",
"significant isolation from the mainstream of normal culture",
"marked preoccupation with their sons",
"great stress",
"diminished expression of enjoyment",
"handicap",
"marked difficulty in responding to death issues"
] | null | [
"UK"
] | null | null |
duchenne:3985781 | Duchenne muscular dystrophy: a case with prolonged survival. | [
"We report the case of a patient with confirmed Duchenne muscular dystrophy who lived a useful and improved life until age 34. He was first seen in our Muscular Dystrophy Clinic when he was 14; at that time he was functionally quadriplegic and required assistance for all activities of daily living. At age 17, venti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a patient with confirmed \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: 0.8e... | [
"Duchenne muscular dystrophy",
"Muscular Dystrophy",
"acute pneumonia"
] | null | [
"functionally quadriplegic",
"ventilatory insufficiency",
"died",
"accidental death by drowning"
] | [
"required assistance for all activities of daily living",
"provided with a positive pressure device (mouthpiece) to augment his ventilation",
"technique of glossopharyngeal breathing",
"licensed real estate salesman",
"married",
"enrolled as a student at Ohio State University",
"lived on campus",
"mov... | null | null | null |
duchenne:4039107 | Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. | [
"We are reporting a male patient who suffered from chronic granulomatous disease associated with cytochrome b-245 deficiency and McLeod red cell phenotype, Duchenne muscular dystrophy, and retinitis pigmentosa. On cytogenetic analysis, he seemed to have a very subtle interstitial deletion of part of band Xp21. Sinc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We are reporting 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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"chronic granulomatous disease",
"Duchenne muscular dystrophy",
"retinitis pigmentosa",
"X-linked muscular dystrophy"
] | [
"very subtle interstitial deletion of part of band Xp21",
"deleted X chromosome",
"one (probe 754) that is missing from this patient's X chromosome and also from his total DNA",
"deletion rather than a balanced insertion",
"X-linked phenotypes",
"restriction fragment length polymorphism of high frequency"... | null | null | null | [
"cytochrome b-245 deficiency",
"McLeod red cell phenotype"
] | null |
duchenne:3987077 | Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy. | [
"Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported. CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non-paretic muscles."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n computed tomographic (CT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Duchenne muscular dystrophy"
] | null | [
"decrease in density was found in various non-paretic muscles"
] | null | null | null | null |
duchenne:4083391 | Lipid composition of the cerebral gray and white matter in a case with Fukuyama type congenital muscular dystrophy. | [
"When compared with an age-matched normal control and a Duchenne muscular dystrophy (DMD) case, the patient with FCMD had an unusual ganglioside pattern in the cerebral gray matter. The total level of lipid-bound sialic acid in the cerebral gray matter was also slightly decreased. However, other lipid compositions ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">When compared with an age-matched normal control and 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=\"f... | [
"Duchenne muscular dystrophy (DMD)",
"FCMD"
] | null | null | null | null | null | [
"other lipid compositions of the cerebral gray and white matter were normal"
] |
duchenne:4077054 | High-resolution banding study of an X/4 translocation in a female with Duchenne muscular dystrophy. | [
"A rare female case of Duchenne muscular dystrophy with an X/4 translocation was found. Detailed cytogenetic analyses by R-banding and high-resolution G-banding techniques revealed that the exchange point involved in the translocation was at the p21.1 band on the X chromosome."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A rare \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-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy"
] | [
"X/4 translocation",
"the exchange point involved in the translocation was at the p21.1 band on the X chromosome"
] | null | null | null | null | null |
duchenne:3985750 | [Treatment of Duchenne's myopathy with early physiotherapy. Critical analysis]. | [
"The efficiency of a therapeutic modality in Duchenne Muscular Dystrophy (DMD) is difficult to judge. The usual criterion used is the time period between the beginning of walking and its loss. Thirty-five patients treated with early intensive physiotherapy were compared with 28 untreated ones. On average, the prolo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The efficiency of a therapeutic modality 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 Duchenne Muscular Dystrophy (DMD)\n <span style=\"font-size: 0... | [
"Duchenne Muscular Dystrophy (DMD)"
] | null | [
"beginning of walking and its loss",
"prolongation of walking"
] | [
"early intensive physiotherapy",
"wheelchair bound"
] | null | null | null |
duchenne:6744092 | Succinylcholine-induced cardiac arrest in unsuspected Duchenne muscular dystrophy. | [
"A case history is presented of a three-year-old boy with unsuspected Duchenne muscular dystrophy, who suffered a cardiac arrest following the administration of a single dose of succinylcholine during a halothane anaesthetic. The arrest was associated with lack of fasciculations, muscle rigidity, hyperkalemia, myog... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case history is presented 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 three-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy"
] | null | [
"cardiac arrest",
"arrest",
"lack of fasciculations",
"muscle rigidity",
"Asystole was prolonged",
"cardiac activity was eventually restored",
"circulatory collapse"
] | [
"administration of a single dose of succinylcholine during a halothane anaesthetic",
"Neither succinylcholine",
"halothane"
] | null | [
"hyperkalemia",
"myoglobinuria",
"massive elevation of serum creatine phosphokinase"
] | [
"unsuspected Duchenne muscular dystrophy",
"refractory to treatment"
] |
duchenne:6745920 | Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. | [
"A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidi... | [
"<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... | [
"X-linked muscular dystrophy of the Duchenne type",
"X-linked muscular dystrophy"
] | [
"X-autosome reciprocal translocation t(X;21) (p21;p12)",
"preferential inactivation of the normal X",
"X-autosome translocation",
"exchange point in the X chromosome is in band p21 at or near the site of the Duchenne gene"
] | null | null | null | null | null |
duchenne:6537854 | Regenerated muscle fibers in Duchenne muscular dystrophy: a serial section study. | [
"Muscle fibers from two boys with Duchenne muscular dystrophy and one normal boy were, for 6 mm, traced in serial sections. In normal muscle, we saw no branching or terminating fibers, and fiber diameters varied in different levels by +/- 5%. Dystrophic muscles showed signs of regeneration after segmental necrosis:... | [
"<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 Muscle fibers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Duchenne muscular dystrophy",
"Dystrophic muscles",
"Duchenne muscles"
] | null | [
"fiber diameters varied in different levels by +/- 5%",
"signs of regeneration",
"segmental necrosis",
"multiple branchings",
"caliber variations",
"short noninnervated fibers",
"some regenerates lack innervation and possibly vanish as well",
"regeneration finally fails"
] | null | null | null | [
"normal muscle",
"no branching or terminating fibers"
] |
duchenne:6490012 | X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers. | [
"We report a unique case of a 46-year-old female who had signs of Duchenne-like muscular dystrophy on clinical, electromyographic, and laboratory investigation. A brother, sister, maternal uncle, and her own son also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both the X chromosom... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a unique 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 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | null | null | [
"signs of Duchenne-like muscular dystrophy"
] | null | null | null | [
"both the X chromosomes to be morphologically normal"
] |
duchenne:6425197 | Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. | [
"The results of the diagnostic application of first trimester trophoblast sampling in 100 pregnancies are reported in detail. Further improvement of the method for routine, direct chromosome analysis resulted in a technique which proved to be fast, simple, and efficient. We found that short-term incubation of villi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The results of the diagnostic application 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 first trimester trophoblast sampling\n <span style=\"font-siz... | [
"pregnancies",
"pregnancies",
"Duchenne muscular dystrophy",
"pregnancies",
"gangliosidosis GM1",
"Niemann-Pick disease",
"Hurler syndrome",
"metabolic diseases"
] | [
"trisomic fetuses"
] | [
"abnormal chromosome constitution",
"abnormal fetus",
"spontaneous abortion",
"inconsistency between the results of the assay of iduronidase on chorionic villi and amniotic fluid cells"
] | [
"villi sampling"
] | null | null | [
"failure of sampling"
] |
duchenne:6334482 | Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation. | [
"A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21."
] | [
"<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 balanced de novo (X;9) translocation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"progressive muscular dystrophy of Duchenne's type (DMD)",
"Turner's syndrome"
] | [
"balanced de novo (X;9) translocation",
"involvement of the paternal X",
"gene locus for DMD",
"Xp21."
] | [
"epilepsy",
"mental retardation"
] | null | null | null | null |
duchenne:6655672 | Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD. | [
"Females who fully manifest Duchenne muscular dystrophy (DMD), an X linked disorder, are extremely rare. Cytogenetic studies are indicated in such females to rule out an X chromosome abnormality, which could render a female hemizygous for X linked genes. At present there are six reports describing females with Duch... | [
"<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)",
"Duchenne muscular dystrophy",
"DMD"
] | [
"X linked disorder",
"X chromosome abnormality",
"hemizygous for X linked genes",
"X; autosome translocation",
"rearrangements involves a different autosome, (chromosomes 11, 21, 1, 3, 5, and 6)",
"breakpoint at Xp21",
"de novo translocation between Xp and 9p",
"is also located at Xp21",
"DMD gene"
... | null | null | null | null | null |
duchenne:6315281 | Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs. | [
"A family is described with three male sibs suffering from congenital adrenal hypoplasia (CAH). In the two surviving brothers the disease is clinically further characterized by a Duchenne type muscular dystrophy, growth failure and severe mental retardation. Laboratory investigations revealed deficient activities o... | [
"<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 family\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne type muscular dystrophy"
] | null | [
"growth failure",
"severe mental retardation"
] | null | null | [
"deficient activities of gonadotrophin and glycerol kinase"
] | null |
duchenne:6866009 | Reinnervation in Duchenne muscular dystrophy. | [
"Motor neuron abnormalities have been implicated in the pathogenesis of Duchenne muscular dystrophy. Evidence concerning the effect of injury on motor neurons of human Duchenne muscular dystrophy (DMD) is lacking. We report a DMD patient having, in addition, an obstetric paresis on his left arm. EMG and muscle hist... | [
"<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 Motor neuron abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy (DMD)",
"DMD"
] | null | [
"Motor neuron abnormalities",
"injury",
"obstetric paresis on his left arm",
"signs of reinnervation superimposed on myopathy in his left arm",
"sprouting is preserved in DMD motor neurons",
"muscle fibers retain the capability of accepting reinnervation"
] | null | null | null | null |
duchenne:6400743 | Anaesthesia induced rhabdomyolysis--a case report. | [
"Anaesthesia-induced rhabdomyolysis (AIR) is a rare but serious complication of general anaesthesia. We report the occurrence of this event in a previously healthy three-year-old male, with a strongly positive family history of Duchenne muscular dystrophy. Following an uneventful anaesthetic, which included succiny... | [
"<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 Anaesthesia-induced rhabdomyolysis (AIR)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Anaesthesia-induced rhabdomyolysis (AIR)",
"myopathy",
"latent myopathy"
] | null | [
"renal failure"
] | [
"general anaesthesia",
"uneventful anaesthetic, which included succinylcholine",
"conservative treatment",
"succinylcholine"
] | null | [
"myoglobinuria"
] | null |
duchenne:6880434 | [Lipid storage myopathy--a contribution to the problem of the differential diagnosis of muscle dystrophy (Duchenne)]. | [
"A case of a lipid myopathy in a 12-year-old boy is reported. The clinical picture was like a muscle-dystrophy (Duchenne) The histochemical investigations demonstrated the lipidmyopathy combined with a neurogenic atrophy."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 lipid myopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"lipid myopathy",
"muscle-dystrophy (Duchenne)",
"lipidmyopathy"
] | null | [
"neurogenic atrophy"
] | null | null | null | null |
duchenne:6868833 | [Unusual peracute cardiac death cases]. | [
"The causes for peracute cardiac death often stem from dysfunction of action-monitoring within the conduction system. By different basic diseases of the heart-partially ischemic circulatory, partially biochemical-biophysical, rarely musculary disorders dominate. This is demonstrated at four cases of death accompani... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The causes 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 peracute cardiac death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"basic diseases of the heart",
"musculary disorders",
"generalized progressive muscular dystrophy (Morbus Duchenne)"
] | null | [
"peracute cardiac death",
"dysfunction of action-monitoring within the conduction system",
"partially ischemic circulatory",
"partially biochemical-biophysical",
"death",
"Localised stenosing coronary arteriosclerosis and -thrombosis",
"chronical shrinkage of both kidneys"
] | [
"anatomically corrected transposition of the large vessels"
] | null | [
"overdosed electrolyte supply"
] | null |
duchenne:6650145 | An unusual cytoplasmic organelle of the perineurium in a case of Duchenne muscular dystrophy. | [
"An unusual cytoplasmic organelle was found in the perineurial sheath of intramuscular nerves in a case of Duchenne muscular dystrophy. It was composed of alternating layers of ribosomes and fibrillar material helically wound around a core of cytoplasm. Comparable organelles have been described in leukemic and othe... | [
"<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 An unusual cytoplasmic organelle was found in the perineurial sheath of intramuscular nerves\n <span style... | [
"Duchenne muscular dystrophy"
] | null | null | null | null | null | null |
duchenne:6606925 | Cardiac manifestations of Becker-type muscular dystrophy. | [
"The electro-, phonomechano- and echocardiographic manifestations observed in a family with documented X-linked Becker-type muscular dystrophy (BMD) are described. Important myocardial dystrophic lesions may occur in young patients with BMD. They are associated with typical electrocardiological findings which were ... | [
"<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 electro-, phonomechano- and echocardiographic\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"BMD",
"Duchenne-type muscular dystrophy"
] | [
"heterozygotes for BMD"
] | [
"Important myocardial dystrophic lesions",
"typical electrocardiological findings",
"Myocardial involvement"
] | null | null | null | null |
duchenne:6224272 | [Role and indications for surgery in Duchenne de Boulogne muscular dystrophy with rapid development]. | [
"One hundred and fifteen children suffering from muscular dystrophy had been treated surgically during the previous 12 years. The aim of the treatment was to slow the progression of development of spine deformity and obtain a prolongation of walking and standing ability. The indications for surgery were in relation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One hundred and fifteen \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; bord... | [
"muscular dystrophy"
] | null | [
"of development of spine deformity",
"prolongation of walking and standing ability",
"trauma",
"progressive lower limb or spine deformity",
"contractures limiting walking ability",
"walking capability had ceased",
"prevent or delay the development of spinal deformity",
"pulmonary vital capacity"
] | [
"treated surgically",
"surgery",
"surgery",
"Surgery",
"correction of deformity",
"to walk again with calipers for an average of 3 years",
"surgery was performed only to allow standing",
"extensive spine fusion"
] | null | null | null |
duchenne:6215975 | Malignant hyperpyrexia and Duchenne muscular dystrophy: A case report. | [
"We report a patient with Duchenne muscular dystrophy who developed malignant hyperpyrexia during general anaesthesia. During anaesthesia bradycardia was followed by ventricular fibrillation, on which ventricular flutter supervened and a body temperature rise of 0.6 degrees C for 15 minutes, myoglobinuria and eleva... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a patient 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; ... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | null | [
"malignant hyperpyrexia",
"bradycardia",
"ventricular fibrillation",
"ventricular flutter supervened",
"body temperature rise of 0.6 degrees C for 15 minutes",
"malignant hyperpyrexia"
] | [
"general anaesthesia",
"anaesthesia",
"general anaesthesia"
] | null | [
"myoglobinuria",
"elevation of CPK level",
"increase in sensitivity"
] | [
"although there was no sign of muscle rigidity during or after anaesthesia"
] |
duchenne:7142385 | Posterior tibial tendon transfer: a review of the literature and analysis of 74 procedures. | [
"At Rancho Los Amigos Hospital on the Children's Orthopedic Service, 43 patients underwent anterior transfer of the posterior tibial tendon through the interosseous membrane between 1969 and 1979. This included 74 procedures for the following diagnoses: Duchenne muscular dystrophy, club-foot, cerebrospastic disease... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">At Rancho Los Amigos Hospital on the Children's Orthopedic Service, 43 patients underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anterior transfer o... | [
"Duchenne muscular dystrophy",
"club-foot",
"cerebrospastic disease (cerebral palsy and head injury)",
"Charcot-Marie-Tooth disease",
"scapuloperoneal dystrophy",
"peroneal palsy",
"Duchenne muscular dystrophy",
"cerebrospastic",
"congenital clubfoot",
"Charcot-Marie-Tooth disease"
] | null | [
"decreasing gait function",
"swing-phase function of the posterior tibialis muscle"
] | [
"anterior transfer of the posterior tibial tendon through the interosseous membrane",
"posterior tibial tendon transfer",
"staged treatment",
"future hindfoot stabilization"
] | null | null | [
"brace fitting problems"
] |
duchenne:6815307 | Decreased A23187-induced chemiluminescence in Duchenne muscular dystrophy granulocytes. | [
"A number of recent reports suggest that intracellular calcium concentration is increased in skeletal muscle in duchenne muscular dystrophy (DMD). Leucocyte chemiluminescent responses are dependent on calcium ions and can be induced by the calcium ionophore A23187. Chemiluminescence may therefore reflect intracellu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A number of recent reports suggest that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intracellular calcium concentration is increased in skeletal muscle\n... | [
"duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | null | null | null | [
"Leucocyte chemiluminescent responses",
"calcium ions",
"Chemiluminescence",
"intracellular calcium levels",
"calcium abnormality",
"A23187-induced chemiluminescence",
"Peak calcium dependent chemiluminescence",
"Peak chemiluminescent responses",
"reduced in DMD leucocytes",
"abnormality of calciu... | null |
duchenne:7202158 | Genetic linkage study of Duchenne muscular dystrophy and hemophilia A. | [
"We studied a family in which three boys had both Duchenne muscular dystrophy and hemophilia A. Seven other males had only hemophilia A. Genetic linkage study showed a maximum likelihood estimate of recombination frequency of these two X-linked recessive traits of 0.16 with 95% confidence limits of 0.045 and 0.50. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied 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 three boys\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | null | [
"recombination frequency of these two X-linked recessive traits"
] | null | null | null | null | null |
duchenne:7137515 | Basilar artery occlusion in a case of Duchenne muscular dystrophy. | [
"This is a report of a case of Duchenne muscular dystrophy (DMD), with multiple infarcts in the territories of the basilar artery. He developed abrupt vomiting and transient left hemiparesis at the age of 4 years. The episodes were seen 3 times between 4-year-1-month to 5-year-1-month old. Transaxial computerized t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a report of 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 Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-wei... | [
"Duchenne muscular dystrophy (DMD)",
"DMD",
"DMD"
] | null | [
"multiple infarcts in the territories of the basilar artery",
"abrupt vomiting",
"transient left hemiparesis",
"multiple, well-defined but irregularly marginated areas of low density centered in the mid- and upper pons, right cerebral peduncle and thalamus",
"narrowed basilar artery",
"basilar artery occl... | null | null | null | null |
duchenne:6763289 | [Birth and metamorphosis of Landouzy-Dejerine progressive atrophic myopathy]. | [
"On June 20th, 1880, was admitted at the \"Hôpital de la Charité\" in Paris, a 21 years-old man showing a very severe atrophy of most of his muscles. This case was going to mark the history of the neuromuscular diseases. In the present article are presented the main clinical, genetic, electrophysiological and anato... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">On June 20th, 1880, was admitted at the "Hôpital de la Charité" in Paris, 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 21 years-old\n <span... | [
"neuromuscular diseases",
"Duchenne",
"atrophie musculaire progressive\"",
"neurogenic origin",
"myopathie atrophique progressive\"",
"myopathy without neuropathy",
"\"",
"myopathie atrophique progressive\"",
"juvenile form of muscle dystrophy",
"scapulo-humeral\" forms",
"myopathie atrophique p... | null | [
"very severe atrophy of most of his muscles",
"facial involvement",
"occasional early onset",
"selective and often asymmetrical weakness and atrophy of the limb muscles",
"some involvement of the facial muscles"
] | null | null | null | [
"without any anatomical or histological data"
] |
duchenne:7334502 | Translocation (X;6) in a female with Duchenne muscular dystrophy: implications for the localisation of the DMD locus. | [
"A female with Duchenne muscular dystrophy who was a carrier of a balanced translocation t(X;6)(p21;q21) is reported. Four other previously described (X;A) translocations associated with DMD share with the present case a breakpoint at Xp21. The extremely low probability of five independent (X;A) translocations havi... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Duchenne muscular dystrophy",
"DMD",
"Duchenne muscular dystrophy"
] | [
"balanced translocation t(X;6)(p21;q21)",
"(X;A) translocations",
"breakpoint at Xp21",
"independent (X;A) translocations having a breakpoint at Xp21",
"DMD phenotype",
"DMD locus at Xp21",
"pre-existing DMD gene could weaken the chromosome",
"breaks at Xp21"
] | null | null | null | null | null |
duchenne:7303802 | Myocardial infarction in a child aged ten with Duchenne muscular dystrophy. | [
"The authors describe the clinical picture, ECG, vectorcardiographic, and serum enzyme assays in one case of acute myocardial infarction occurring after a severe physical exertion in a child aged 10 with progressive muscular dystrophy of the Duchenne type. The picture differs considerably from the electrical aspect... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe the clinical picture, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ECG\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"progressive muscular dystrophy of the Duchenne type",
"myopathy"
] | null | [
"acute myocardial infarction",
"severe physical exertion",
"electrical aspects of \"pseudonecrosis\""
] | null | null | null | null |
duchenne:7296949 | Clinically manifesting carriers in Duchenne muscular dystrophy. | [
"Three manifesting carriers of Duchenne muscular dystrophy were examined clinically and histologically. All had muscle weakness in the upper and lower limbs without facial muscle involvement, onset being at the ages of 35, 19 and 25 years, respectively. Pseudohypertrophy of calves was evident in all cases. Biochemi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three 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\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Duchenne muscular dystrophy",
"myopathy",
"advanced stage of Duchenne muscular dystrophy",
"myopathy"
] | null | [
"muscle weakness in the upper and lower limbs",
"Pseudohypertrophy of calves",
"more severe histological findings",
"cardiac involvement",
"was moderate"
] | null | null | null | [
"without facial muscle involvement",
"Sex chromatin patterns were normal"
] |
duchenne:7258185 | Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. | [
"An isolated case of Duchenne muscular dystrophy in a female who has a de novo t(X;5)(p21;q35) translocation is described. The similarities between this patient and four previously reported females with Duchenne muscular dystrophy are discussed. It is concluded that the locus for Duchenne muscular dystrophy is at X... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An isolated 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 Duchenne muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy"
] | [
"de novo t(X;5)(p21;q35) translocation",
"locus for Duchenne muscular dystrophy",
"is at Xp21",
"chromosome breakage and exchange",
"gene mutation"
] | null | null | null | null | null |
duchenne:7252518 | Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. | [
"Three cases from 2 families had muscle weakness with predilection for distal extremities, predominantly affecting the tibialis anterior muscles, and onset in early adulthood. The disorder seemed to be inherited through an autosomal recessive trait. The EMG demonstrated a myopathic pattern and CPK was mildly elevat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three cases from 2 families had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n muscle weakness with predilection for distal extremities\n <span style=\"f... | [
"Duchenne dystrophy"
] | [
"inherited through an autosomal recessive trait"
] | [
"muscle weakness with predilection for distal extremities",
"predominantly affecting the tibialis anterior muscles",
"myopathic pattern",
"rapid clinical progression"
] | null | null | [
"CPK was mildly elevated",
"activation of certain lysosomal proteolytic enzymes"
] | [
"evidence of regeneration were virtually absent"
] |
duchenne:7217994 | Manifesting carrier of x-linked Duchenne muscular dystrophy. | [
"The authors have investigated the uncommon occurrence of a boy affected with Duchenne muscular dystrophy (DMD) whose mother showed myopathic features in the clinical history, EMG, biochemical tests and muscle biopsy. This study suggests that the patient's mother is a manifesting carrier of X-linked DMD with clinic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors have investigated the uncommon occurrence 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-weig... | [
"Duchenne muscular dystrophy (DMD)"
] | [
"with an almost complete inactivation of the paternal X-chromosome (lyonization)"
] | [
"clinical, neurophysiological, biochemical and histological findings of X-linked DMD"
] | null | null | null | null |
duchenne:7454645 | Proximal muscle weakness in children. | [
"In as many as half of the children referred to a muscle disease clinic, the original diagnosis is ultimately changed. Five cases histories are reviewed here in which Duchenne muscular dystrophy had been mistakenly diagnosed 3 to 12 years previously and the correct diagnosis was made only after repeat muscle biopsy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In as many as half 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 children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"muscle disease",
"Duchenne muscular dystrophy"
] | null | null | null | null | null | [
"mistakenly diagnosed",
"did not have a muscle disease at all"
] |
duchenne:7451237 | Sporadic Duchenne muscular dystrophy in females; genetic counseling of women with pelvifemoral muscular dystrophy. | [
"The first two cases of sporadic Duchenne muscular dystrophy (DMD) in females without a family history of DMD are reported. Both females had normal chromosomes and were identified as DMD by in vitro studies of protein synthesis by muscle ribosomes and by carrier studies of the mother of the proband. These observati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The first two 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 sporadic Duchenne muscular dystrophy (DMD)\n <span style=\"font-size: 0.8em; font-w... | [
"sporadic Duchenne muscular dystrophy (DMD)",
"DMD"
] | [
"X-linked DMD"
] | null | null | null | null | [
"without a family history of DMD",
"normal chromosomes"
] |
duchenne:7274902 | Dynamic gait electromyography study in Duchenne muscular dystrophy (DMD) patients. | [
"Preoperative and postoperative dynamic gait electromyography (EMG) weas performed on 15 patients 8 to 13 year of age with Duchenne's muscular dystrophy who underwent Achilles tendon lengthening and posterior tibial tendon transfer anteriorly through the interosseous ligament for correction of equinus and equinovar... | [
"<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 Preoperative and postoperative dynamic gait electromyography (EMG)\n <span style=\"font-size: 0.8em; font-... | [
"Duchenne's muscular dystrophy"
] | null | [
"equinus and equinovarus foot deformities",
"muscles tested preoperatively (anterior tibial, soleus, gastrocnemius, posterior tibial, peroneal longus, and peroneal brevis) showed phase changes",
"weakened leg muscles fire multiple muscle groups out of phase",
"transferred posterior tibial muscle appeared to b... | [
"Achilles tendon lengthening and posterior tibial tendon transfer anteriorly through the interosseous ligament",
"stabilizing the limb for ambulation",
"walking in long leg braces",
"deformity had been corrected",
"dependent on the brace"
] | null | null | [
"overcome the action of the stronger muscles",
"little activity in the muscles tested",
"need for the muscles to be active out of phase"
] |
duchenne:7434142 | Living with progressive childhood illness: parental management of neuromuscular disease. | [
"This investigation is an exploratory study of parental management of progressive childhood neuromuscular disease. It focuses on parents for their significance as the primary managers of their children's diseases. The study, through its fieldwork component for the collection of data, utilizes participant observatio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This investigation is an exploratory study of parental 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 progressive childhood neuromuscular dise... | [
"progressive childhood neuromuscular disease",
"Duchenne muscular dystrophy",
"Werdnig-Hoffmann disease"
] | null | null | null | null | null | null |
duchenne:498463 | Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy. | [
"This report describes a family showing muscular dystrophy and atrioventricular block with an x-linked hereditary transmission. Among a known pedigree of 101 family members, 12 males were found to have skeletal muscle involvement and six needed pacemakers around age 30 years. Unlike the x-linked muscular dystrophie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes a family showing \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-weight: b... | [
"muscular dystrophy",
"muscular dystrophies",
"Duchenne",
"Becker",
"subtle muscular dystrophy"
] | [
"x-linked hereditary transmission",
"x-linked"
] | [
"atrioventricular block",
"skeletal muscle involvement",
"predominant skeletal involvement was in humeral muscles",
"very mild",
"Cardiac involvement",
"various atrial arrhythmias",
"atrioventricular block",
"incipient complete atrioventricular block",
"fatal complications"
] | [
"pacemakers",
"pacemaker insertion"
] | null | null | [
"did not produce incapacitation"
] |
duchenne:574202 | Muscular dystrophy in six young girls. | [
"Clinical and genetic studies were made on progressive muscular dystrophy in six young girls. No chromosome abnormality was observed in these patients. The pedigree of one case implied a sex-linked recessive trait, and clinical features were identical with Duchenne dystrophy. The clinical manifestations of two sist... | [
"<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 Clinical and genetic studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"progressive muscular dystrophy",
"childhood muscular dystrophy"
] | [
"implied a sex-linked recessive trait",
"autosomal recessive inheritance"
] | [
"clinical features were identical with Duchenne dystrophy"
] | null | null | null | [
"No chromosome abnormality was observed"
] |
duchenne:513086 | Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis. | [
"We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the pro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 2-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Duchenne type muscular dystrophy"
] | null | null | null | null | [
"very high plasma CK levels, equivalent to those observed"
] | [
"both X chromosomes to be morphologically normal"
] |
duchenne:513085 | Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. | [
"A unique combination of a Duchenne-like muscular dystrophy in a girl with a translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome appeared as a result of both gene mutation and chromosome mutation in the mother. The X-autosome rearrangement would permit full expression of an X-linke... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A unique combination 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-like muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Duchenne-like muscular dystrophy"
] | [
"translocation-inversion rearrangement involving an X chromosome and a no 1 chromosome",
"gene mutation",
"X-autosome rearrangement",
"full expression of an X-linked recessive gene, such as that for Duchenne muscular dystrophy",
"simultaneous de novo appearance of the Duchenne mutation and the X;1 rearrange... | [
"characteristic Duchenne-like course"
] | null | null | null | null |
duchenne:454124 | Mechanical ventilation of patients with late stage Duchenne muscular dystrophy: management in the home. | [
"Death in the late stage of Duchenne muscular dystrophy is most frequently a consequence of respiratory failure. Since muscles of ventilation become weakened the bellows mechanism fails insidiously. Patients exhibit symptoms of ventilatory insufficiency, the first to be noticed are those associated with CO2 retenti... | [
"<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 Death\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Duchenne muscular dystrophy",
"late stage Duchenne muscular dystrophy"
] | null | [
"Death",
"respiratory failure",
"muscles of ventilation become weakened",
"bellows mechanism fails insidiously",
"symptoms of ventilatory insufficiency",
"CO2 retention",
"dyspnea",
"nightmares",
"increased heart rate",
"increased blood pressure",
"respiratory distress"
] | [
"mechanical aid for ventilatory assistance",
"mechanical assistance",
"continuous mechanical ventilatory aid"
] | null | null | null |
duchenne:448400 | A freeze-fracture study of the plasma membrane of muscle fibres of a patient with chronic creatine kinase elevation suspected for malignant hyperthermia. | [
"The muscle biopsy from a 12-year-old boy with chronic creatine kinase elevation was studied by electron microscopy. At the age of 7 years the patient had a possible abortive attack of malignant hyperthermia. The biopsy specimen contained many fibres with segmental contracture and necrosis; thin sections showed def... | [
"<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 muscle biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"abortive attack of malignant hyperthermia",
"Duchenne muscular dystrophy",
"myogenic disorder"
] | null | [
"irregular elevations and the P-face corresponding defects",
"deviations of the fracture-plane",
"manifest membrane openings",
"manifest defects",
"manifest defects",
"defects in other systems of the muscle cell"
] | null | null | [
"chronic creatine kinase elevation"
] | null |
duchenne:449173 | Acute hypokalemia as a possible cause of death in a patient with advanced muscular dystrophy. | [
"A patient with advanced muscular dystrophy of the Duchenne type developed severe hypokalemia thought to be secondary to moderate gastro-intestinal losses in association with reduced intracellular potassium stores. With correction of the hypokalemia, the cardiac rhythm became more normal. In patients with advanced ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient 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 advanced muscular dystrophy of the Duchenne type\n <span style=\"font-size: 0.8em; font-wei... | [
"advanced muscular dystrophy of the Duchenne type",
"advanced dystrophy"
] | null | [
"cardiac rhythm became more normal"
] | null | null | [
"severe hypokalemia",
"moderate gastro-intestinal losses",
"reduced intracellular potassium stores",
"hypokalemia",
"hypokalemia"
] | null |
duchenne:712291 | Duchenne electrocardiogram in myotonia dystrophica. | [
"The term \"myopathic pattern\" is applied to the electrocardiographic finding of R/S in lead V1 of more than 1.5 in association with deep Q and prominent R waves in leads V4-V6. Such findings are characteristic of Duchenne's pseudohypertrophic muscular dystrophy and reportedly do not occur in other types of muscul... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The term "\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n myopathic pattern\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Duchenne's pseudohypertrophic muscular dystrophy",
"muscular dystrophy",
"myopathy",
"myotonia dystrophica"
] | null | [
"myopathic pattern",
"R/S in lead V1 of more than 1.5 in association with deep Q and prominent R waves in leads V4-V6",
"Duchenne electrocardiographic pattern"
] | null | null | null | null |
duchenne:570659 | Reproduction in Duchenne dystrophy. | [
"A man with Duchenne muscular dystrophy fathered two living children. He was 1 of 10 affected males in 5 generations. Clinical and genetic patterns, muscle biopsies, autopsy results, and serum enzymes were all compatible with the diagnosis of Duchenne muscular dystrophy. History, blood typing, and karyotypes indica... | [
"<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 man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Duchenne muscular dystrophy",
"Duchenne muscular dystrophy",
"Duchenne dystrophy"
] | [
"transmitted as an X-linked defect"
] | null | null | null | null | null |
duchenne:739346 | Duane's retraction syndrome associated with muscular dystrophy. | [
"A case of unilateral type I Duane's syndrome associated with muscular dystrophy is presented. The diagnosis of muscular dystrophy (Duchenne type) is firmly established by clinical, biochemical, electrophysiological, and histological observations. The ocular anomali is clearly distinguished from other congenital di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 unilateral type I Duane's syndrome associated with muscular dystrophy\n <span style=\"font-size:... | [
"unilateral type I Duane's syndrome associated with muscular dystrophy",
"muscular dystrophy (Duchenne type)"
] | null | [
"ocular anomali",
"congenital disorders of eye movements",
"combination of these two congenital anomalities"
] | null | null | null | null |
duchenne:569459 | X-linked muscular dystrophy. | [
"X-linked muscular dystrophy has been separated into two types that are generally considered to be distinct entities. We have investigated three families with X-linked muscular dystrophy who demonstrate remarkable intrafamilial variability. In one family 2 brothers with a benign type had a maternal uncle who was af... | [
"<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 muscular dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"X-linked muscular dystrophy",
"X-linked muscular dystrophy"
] | null | [
"severe and benign types",
"Clinical similarities between benign and severe types of X-linked muscular dystrophy"
] | null | null | null | null |
duchenne:926310 | Systolic time intervals in patients with progressive muscular dystrophy of the Duchenne type. | [
"Systolic time intervals (STIs) were measured in 57 patients with progressive muscular dystrophy (PMD) of the Duchenne type, and were correlated with the stages of physical disability. The total electromechanical systole (Q-A2), pre-ejection period (PEP), and left ventricular ejection time (LVET) were corrected for... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Systolic time intervals (STIs) were measured in 57 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 progressive muscular dystrophy (PMD) of the ... | [
"progressive muscular dystrophy (PMD) of the Duchenne type",
"P-3",
"moderate to advanced PMD of the Duchenne type"
] | null | [
"physical disability",
"total electromechanical systole (Q-A2), pre-ejection period (PEP",
"in the PEP index (PEPI)",
"in the LVET index (LVETI)",
"in the PEP/LVET",
"Remarkable myocardial histopathologic changes suggestive of dystrophy",
"impaired STIs",
"cardiac function",
"changes in the skeletal... | [
"confined to bed"
] | null | null | [
"the STIIs did not differ significantly from those in normal controls",
"unable to walk"
] |
duchenne:880066 | The spectrum of mild X-linked recessive muscular dystrophy. | [
"We present 19 patients from 12 families with mild (Becker) X-linked recessive dystrophy and compare them with previously described cases. Features in common in the majority of patients include onset after the age of 7 years, walking beyond the age of 20 to 30 years, mild hypertrophy of the calves, mild joint contr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 19 patients from 12 families 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 mild (Becker) X-linked recessive dystrophy\n <span style=\"fo... | [
"mild (Becker) X-linked recessive dystrophy",
"severe (Duchenne) X-linked dystrophy",
"limb girdle dystrophy"
] | null | [
"walking beyond the age of 20 to 30 years",
"mild hypertrophy of the calves",
"mild joint contractures",
"high arched feet"
] | null | null | null | [
"Pshychometric tests, EEGs, and ECGs were usually normal"
] |
duchenne:559260 | Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins. | [
"Duchenne muscular dystrophy manifested in one of girl twins. The twins were monozygous on the basis of red cell and HL antigens and skin graft compatibility. Karyotyping, including banding techniques, showed a normal number of chromosomes and a normal configuration of the X-chromosome in both twins. The twins were... | [
"<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 dystrophy"
] | [
"normal configuration of the X-chromosome",
"lyonization of the X-chromosome"
] | [
"skin graft compatibility",
"symptoms of Duchenne dystrophy",
"phenotypic difference in monozygous twins"
] | null | null | [
"red cell and HL antigens"
] | [
"normal number of chromosomes",
"normal karyotypes"
] |
duchenne:850276 | Fractures of long bones in Duchenne muscular dystrophy. | [
"The dangers of bed-confininf procedures in children with Duchenne Muscular Dystrophy should be recognized, and their fractures treated so as to encourage continued independent ambulation as long as feasible."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The dangers 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 bed-confininf procedures\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Duchenne Muscular Dystrophy"
] | null | null | [
"bed-confininf procedures",
"continued independent ambulation"
] | null | null | null |
duchenne:973785 | Hand dominance and scoliosis in Duchenne muscular dystrophy. | [
"Twenty-three patients with Duchenne muscular dystrophy and scoliosis were studied. In all but one patient the major convexity was to the side of the dominant hand. The unsupported growing spine is easily unbalanced by asymmetrical forces imposed on it. From our observations we believe major use of a single upper e... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Twenty-three 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\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Duchenne muscular dystrophy",
"scoliosis"
] | null | [
"major convexity was to the side of the dominant hand",
"unsupported growing spine is easily unbalanced by asymmetrical forces imposed on it",
"scoliosis with the major convexity toward the side of the dominant hand",
"counterbalancing the postural abnormality imposed by hand dominance"
] | [
"major use of a single upper extremity",
"unloading the spine frequently"
] | null | null | null |
duchenne:1016284 | [Duchenne muscular dystrophy in girls (author's transl)]. | [
"The AA., after a review cases of girls suffering from a muscular dystrophy like Duchenne, present two cases that they think to set in the same nosographical context. Even though they admit its extreme rarity and the possiblility that many cases previously published are controversial, they accept that Duchenne myod... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The AA., after a review 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 girls\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"muscular dystrophy like Duchenne",
"Duchenne myodistrophic syndromes"
] | null | null | null | null | null | null |
duchenne:51063 | Duchenne muscular dystrophy and poliomyelitis. A study of dystrophic-denervated muscle. | [
"A systematic study of dystrophy-denervation in human muscle showed minimal morphometabolic differences between dystrophic and dystrophic-denervated muscle. The only certain conclusion is that denervation influences the rhythm of evolution of the dystrophy without impressing any of the few characteristics considere... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A systematic 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 dystrophy-denervation\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"dystrophy-denervation",
"dystrophy"
] | null | [
"minimal morphometabolic differences between dystrophic and dystrophic-denervated muscle"
] | [
"denervation"
] | null | null | [
"without impressing any of",
"denervation"
] |
duchenne:1215400 | Muscular dystrophy in young girls. | [
"Muscular dystrophy occurred in four girls. In only one of these was the syndrome both proximal and with pseudo-hypertrophy, thus clinically resembling the x-linked Duchenne type of the disease. The evidence for a primary dystrophic process existing in the four individuals is based on the laboratory findings of ver... | [
"<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 dystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Muscular dystrophy",
"primary dystrophic process",
"myopathies",
"true muscular dystrophy",
"Duchenne-like\" type"
] | [
"x-linked Duchenne type of the disease"
] | [
"syndrome both proximal and with pseudo-hypertrophy",
"myopathic E.M.G. appearances",
"proximal with contractures",
"limb girdle with facial involvement"
] | null | null | [
"very high serum creatine kinase levels"
] | [
"previously considered to be dystrophic in nature"
] |
fac:35060353 | Step-by-step typing for the accurate diagnosis of concurrent light chain and transthyretin cardiac amyloidosis. | [
"While 99m Tc-pyrophosphate scintigraphy is clearly useful in diagnosing transthyretin amyloid cardiomyopathy (ATTR-CM), it is necessary to know the pitfalls of this test for proper use. We present a rare case of concurrent ATTR-CM and amyloid light chain (AL) cardiomyopathy. The patient showed congestive heart fai... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 99m Tc-pyrophosphate scintigraphy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"transthyretin amyloid cardiomyopathy (ATTR-CM)",
"concurrent ATTR-CM and amyloid light chain (AL) cardiomyopathy",
"AL amyloidosis",
"both ATTR-CM and AL cardiomyopathy",
"cardiac amyloidosis"
] | null | [
"congestive heart failure",
"left ventricular hypertrophy",
"abnormal cardiac uptake of Grade 3, a typical feature for ATTR-CM",
"renal impairment"
] | null | null | [
"proteinuria",
"monoclonal gammopathy"
] | null |
fac:34983267 | A Case of Early Hereditary Transthyretin Amyloid Cardiomyopathy Recognition With Genetic Screening: A Case Report. | [
"Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is one of the most common types of cardiac amyloidosis. Amyloid cardiomyopathy more commonly affects men, elderly, and 3% to 4% of the African-American population. ATTR-CM suspicion and diagnosis is challenging; however, awareness of the disease is increas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Background: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin amyloid cardiomyopathy (ATTR-CM)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Transthyretin amyloid cardiomyopathy (ATTR-CM)",
"cardiac amyloidosis",
"Amyloid cardiomyopathy",
"ATTR-CM",
"ATTR-CM",
"prostate cancer",
"Restrictive cardiomyopathy",
"ATTRm",
"ATTR-CM",
"ATTR-CM"
] | [
"pathogenic trasnthyretin gene mutation"
] | [
"heart failure",
"red flag signs and symptoms",
"hyperlipidemia",
"hypertension",
"cardiac arrhythmia",
"heart failure",
"out of proportion signs and symptoms of heart failure",
"preserved ejection fractions"
] | [
"bilateral carpal tunnel surgery"
] | [
"African-American",
"African American"
] | null | null |
fac:34868409 | Preclinical diagnosis of wild-type transthyretin amyloid cardiomyopathy in a patient undergoing carpal tunnel release. | [
"Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) has received increased attention because of its novel treatment options. Carpal tunnel syndrome (CTS) is known as early symptoms in transthyretin amyloidosis (ATTR) preceding cardiac involvement and one of the \"red flags\" for ATTR-CM. A 64-year-old man u... | [
"<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 Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM)",
"transthyretin amyloidosis (ATTR)",
"ATTR-CM",
"carpal tunnel syndrome",
"wild-type ATTR",
"early stage of ATTR-CM",
"ATTRwt-CM",
"ATTRwt-CM",
"CTS",
"ATTR-CM",
"preclinical ATTR-CM",
"Bilateral carpal tunnel syndrome (CTS)",
"tra... | null | [
"Carpal tunnel syndrome (CTS)",
"cardiac involvement",
"positive findings for ATTR-CM"
] | [
"carpal tunnel release",
"operation"
] | null | null | [
"no TTR gene mutation",
"no definitive findings of ATTR-CM",
"no heart failure symptoms"
] |
fac:34816083 | Genome silencer therapy leading to 'regression' of cardiac amyloid load on cardiovascular magnetic resonance: a case report. | [
"Hereditary or variant transthyretin amyloidosis (ATTRv) is a progressive disease manifesting with neuropathy and/or cardiomyopathy. An early and accurate diagnosis of cardiac amyloidosis is a pre-requisite for timely and appropriate patient management, including anti-amyloid therapies, as it is associated with hea... | [
"<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 Hereditary or variant transthyretin amyloidosis (ATTRv)\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Hereditary or variant transthyretin amyloidosis (ATTRv)",
"cardiac amyloidosis",
"ATTRv",
"mixed amyloidosis phenotype (neuropathy and cardiomyopathy)",
"ATTRv cardiomyopathy reversal",
"cardiomyopathy"
] | null | [
"neuropathy",
"cardiomyopathy",
"heart failure",
"conduction disease",
"arrhythmias",
"reduced quality of life",
"early death",
"Cardiac disease",
"tachyarrhythmias (atrial fibrillation)",
"conduction abnormalities (atrio-ventricular block)",
"segmental left ventricular (LV) hypertrophy (septal ... | [
"anti-amyloid therapies",
"genome-silencer therapies",
"anti-amyloid therapy",
"anti-amyloid therapies"
] | null | null | null |
fac:34623301 | Wild type transthyretin cardiac amiloidozis as a rare and overlooked underlying etiology in a patient with heart failure with preserved ejection fraction and left ventricular hypertrophy. | [
"Cardiac amyloidosis (CA) is a rare, progressive, infiltrative and restrictive cardiomyopathy characterized by extracellular deposition of insoluble amyloid fibrils in the form of misfolded endogenous proteins in the heart. The most common types of CA are transthyretin (TTR) and immunoglobulin light chain (AL) amyl... | [
"<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 Cardiac amyloidosis (CA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Cardiac amyloidosis (CA)",
"infiltrative and restrictive cardiomyopathy",
"CA",
"transthyretin (TTR) and immunoglobulin light chain (AL) amyloidosis",
"TTR-CA",
"(mTTR-CA)",
"CA",
"CA",
"TTR-CA",
"wtTTR-CA",
"HFpEF"
] | [
"wild-type (wtTTR-CA)"
] | [
"heart failure with preserved ejection fraction",
"HFpEF",
"left ventricular hypertrophy"
] | null | null | null | null |
fac:34508392 | A challenging road to diagnosing transthyretin cardiac amyloidosis and using technetium-99m pyrophosphate bone scintigraphy in nuclear cardiology - A case report. | [
"Cardiac amyloidosis (CA) is a rare form of protein deposition disease, leading to restrictive cardiomyopathy that often presents with signs and symptoms of unexplained heart failure with preserved ejection fraction (HFpEF). There are two main subtypes of CA, namely light chain amyloidosis (AL) and transthyretin am... | [
"<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 Cardiac amyloidosis (CA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Cardiac amyloidosis (CA)",
"protein deposition disease",
"restrictive cardiomyopathy",
"CA",
"light chain amyloidosis (AL)",
"transthyretin amyloidosis (ATTR)",
"transthyretin cardiac amyloidosis (ATTR-CA) subtype",
"ATTR-CA",
"ATTR-CA",
"typing cardiac amyloidosis"
] | null | [
"signs and symptoms of unexplained heart failure with preserved ejection fraction (HFpEF)",
"acute heart failure symptoms",
"ECHO findings were suspicious for CA",
"radiotracer uptake in the myocardium that was higher than the skeletal bone uptake",
"Perugini score of 3",
"increased heart to contralateral... | null | null | null | null |
fac:34395106 | Ruptured Bullae: A Case of Transthyretin Cardiac Amyloidosis. | [
"Amyloidosis is a rare disease with an incidence of only 16.6 per 100,000 patients per year. A high grade of clinical suspicion is required to suspect an atypical cause of left ventricular hypertrophy or new-onset heart failure. A transthoracic echocardiogram (TTE) is the initial evaluation that may yield clues poi... | [
"<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 Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"cardiac amyloidosis",
"cardiac amyloidosis",
"transthyretin amyloidosis (ATTR)",
"chronic, treatment-resistant heart failure",
"ATTR cardiac amyloidosis"
] | null | [
"left ventricular hypertrophy",
"new-onset heart failure",
"thicken sections of the heart",
"ventricular restriction",
"preserved ejection fraction",
"New York Heart Association class III",
"multiple ruptured bullae in the bilateral lower extremity"
] | null | null | null | null |
fac:34317679 | Hereditary Apolipoprotein A-I-Associated Cardiac Amyloidosis: Importance of Endomyocardial Biopsy When Suspicion Remains High. | [
"Cardiac amyloidosis has recently garnered substantial attention. Although the advent of noninvasive diagnostic algorithms revolutionized diagnosis, endomyocardial biopsy may still be considered in select cases to determine the amyloidosis subtype definitively. We report a case of a patients with a known mutation c... | [
"<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 Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Cardiac amyloidosis",
"amyloidosis"
] | [
"mutation causing hereditary apolipoprotein A-I-associated cardiac amyloidosis"
] | null | null | null | null | null |
fac:34317109 | Early-Onset of Transthyretin Amyloidosis in a Young Afro-Caribbean Woman With Thr60Ala Mutation. | [
"Transthyretin amyloidosis involves the deposition of transthyretin amyloid fibrils in the body. We report an unusual case of a young Afro-Caribbean woman harboring a Thr60Ala mutation who presented with clinical signs of heart failure and polyneuropathy confirmed with genetic testing and results of an abdominal fa... | [
"<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 Transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Transthyretin amyloidosis",
"polyneuropathy"
] | [
"Thr60Ala mutation"
] | [
"clinical signs of heart failure"
] | null | [
"Afro-Caribbean"
] | null | null |
fac:34145794 | Trajectory of left ventricular geometry and diastolic dysfunction in hereditary transthyretin cardiac amyloidosis. | [
"Amyloid transthyretin (ATTR) depositions cause left ventricular (LV) hypertrophy, diastolic dysfunction, and heart failure. The time course of changes in LV geometry and diastolic dysfunction has not been fully reported in patients with ATTR cardiomyopathy. A 79-year-old woman with previous myocardial infraction p... | [
"<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 Amyloid transthyretin (ATTR) depositions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"ATTR cardiomyopathy",
"Val30Met hereditary ATTR cardiomyopathy",
"ATTR cardiomyopathy"
] | null | [
"left ventricular (LV) hypertrophy",
"diastolic dysfunction",
"heart failure",
"diastolic dysfunction",
"myocardial infraction",
"shortness of breath on exertion",
"progressive bilateral lower extremity weakness",
"polyneuropathy",
"significant LV concentric remodelling with small LV cavity",
"inc... | null | null | null | null |
fac:34066321 | Cardiac Amyloidosis-Challenging Diagnosis and Unclear Clinical Picture. | [
"Cardiac amyloidosis (CA) is a rare systemic disease determined by the extracellular deposition of amyloid protein in the heart. The protein can accumulate in any part of the heart: myocardium, vessels, endocardium, valves, epicardium and parietal pericardium. The types of CA include the following types: light chai... | [
"<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 Cardiac amyloidosis (CA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Cardiac amyloidosis (CA)",
"rare systemic disease",
"CA",
"light chain (AL)",
"amyloidosis AA (Amyloid A)",
"transthyretin (ATTR)",
"CA"
] | null | [
"severe deterioration of exercise capacity",
"bilateral reduction of physiological vesicular murmur",
"ascites",
"edema of lower extremities"
] | null | null | null | null |
fac:34040908 | Noninvasive Diagnostic Modalities in an Isolated Case of Cardiac Amyloidosis. | [
"Amyloidoses are a family of inherited or acquired disorders characterized by the deposition of insoluble extracellular protein fibrils in various organs and tissues, thereby impairing their function. Amyloidoses are typically misfolded proteins, and on rare occasions, can deposit in the myocardium resulting in 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 Amyloidoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidoses",
"Amyloidoses",
"infiltrative/restrictive cardiomyopathy",
"Restrictive cardiomyopathy",
"congestive heart failure (CHF)",
"cardiac amyloidosis",
"familial systemic amyloidosis",
"senile cardiac amyloidosis",
"cardiac amyloidosis",
"cardiac amyloidosis",
"cardiac amyloidosis",
"r... | [
"inherited or acquired disorders",
"abnormalities in the liver protein transthyretin (TTR",
"Mutated serum TTR",
"wild-type TTR"
] | [
"impairing their function",
"preserved ejection fraction",
"atrial and ventricular arrhythmias",
"conduction defects",
"left ventricular ejection fraction (LVEF)",
"is usually preserved",
"severe systolic dysfunction (decreasedLVEF)"
] | [
"organ transplant",
"symptomatic and supportive care"
] | null | [
"thyroxine and retinol-retinol binding complex transporter in blood"
] | null |
fac:34032384 | False-positive bone scintigraphy denoting transthyretin amyloid in elderly hypertrophic cardiomyopathy. | [
"A positive nuclear scintigraphy with hydroxy bisphosphonate bone tracer (99mTc-HPD) is believed to have high sensitivity (>99%) and specificity (91%) for the diagnosis of transthyretin amyloid cardiomyopathy. We report the case of an 85-year-old man with increased thickness of ventricular walls and a positive bone... | [
"<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 positive nuclear scintigraphy with hydroxy bisphosphonate bone tracer (99mTc-HPD)\n <span style=\"font-s... | [
"transthyretin amyloid cardiomyopathy",
"sarcomeric hypertrophic cardiomyopathy",
"sarcomeric hypertrophic cardiomyopathy",
"hypertrophic cardiomyopathy",
"transthyretin amyloidosis",
"cardiomyopathies",
"hypertrophic phenotype"
] | null | [
"increased thickness of ventricular walls",
"positive bone scintigraphy",
"focal cell necrosis related to demand/supply oxygen mismatch",
"small vessels disease",
"inflammation",
"false-positive bone scintigraphy signal"
] | null | null | null | [
"scored negative for amyloidosis",
"Genetic study did not show TTR and most commonly involved sarcomeric genes mutations"
] |
fac:34017661 | Carpal Tunnel Syndrome in Transthyretin Cardiac Amyloidosis: Implications and Protocol for Diagnosis and Treatment. | [
"Amyloidosis is a group of disorders that occurs due to the aggregation of insoluble and misfolded proteins in the extracellular space, eventually resulting in organ dysfunction. Type II amyloidosis is caused by the deposition of transthyretin (TTR), which will be the main focus of this article. Deposition of TTR 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 Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"Type II amyloidosis",
"restrictive form of cardiomyopathy",
"carpal tunnel syndrome (CTS)",
"CTS",
"cardiac amyloidosis (CA)",
"CTS",
"CA",
"bilateral CTS",
"CA",
"CA",
"CTS"
] | null | [
"organ dysfunction",
"pain and paresthesia in the distribution of the median nerve in the left and right wrist",
"positive Phalen's maneuver",
"Tinel's sign",
"cardiac involvement"
] | null | null | null | null |
fac:33907095 | Wild type transthyretin cardiac amyloidosis in a young individual: A case report. | [
"Senile systemic amyloidosis, a disease of elderly is caused by amyloid deposition of wild-type transthyretin. The symptoms often overlap with other heart diseases. Hence it is either misdiagnosed or considered as a normal aging process in majority of cases.",
"We present a young patient of wild-type transthyreti... | [
"<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 Senile systemic amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Senile systemic amyloidosis",
"wild-type transthyretin amyloidosis",
"wild-type transthyretin amyloidosis",
"wild type transthyretin amyloid cardiomyopathy (ATTR-CM)"
] | null | [
"overlap with other heart diseases",
"dyspnoea on exertion",
"hypertension for consecutive 3 years",
"left ventricular hypertrophy with reduced global longitudinal strain and apical sparing",
"Blood pressure was controlled",
"exertional dyspnoea",
"expired",
"cardiac distress with unknown etiology"
] | [
"combination of amlodipine 5 mg, telmisartan 40 mg, and chlorthalidone 12.5 mg once daily"
] | null | null | [
"misdiagnosed",
"absence of any mutant variant/s of transthyretin gene"
] |
fac:33811585 | Multi-system neurological disorder associated with a CRYAB variant. | [
"We report a multiplex family with extended multisystem neurological phenotype associated with a CRYAB variant. Two affected siblings were evaluated with whole exome sequencing, muscle biopsy, laser microdissection, and mass spectrometry-based proteomic analysis. Both patients and their mother manifested a combinat... | [
"<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 multiplex family with extended multisystem neurological phenotype\n <span style=\"font-size: 0... | [
"alpha B-crystallinopathies"
] | [
"CRYAB variant",
"heterozygous c.458C>T variant mapped to the C-terminal extension domain of the Alpha-crystallin B chain, disrupting its function as a molecular chaperone and its ability to suppress protein aggregation",
"Ser153",
"CRYAB variant"
] | [
"early-onset cataracts",
"cardiomyopathy",
"cerebellar ataxia",
"optic atrophy",
"cognitive impairment",
"myopathy",
"central nervous system"
] | null | null | null | [
"trichrome staining were negative for the other routine histochemical staining and for amyloid"
] |
fac:33715921 | Exertional chest pain is sometimes more than just coronary atherosclerosis. | [
"A 64-year-old male, with cardiovascular risk factors and previous history of bilateral carpal tunnel syndrome, presented with exertional retrosternal pain. The resting echocardiogram was unremarkable. A stress echocardiogram with dobutamine revealed hypokinesis of the inferior wall, associated with angina, followe... | [
"<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 64-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"microvascular angina",
"familial amyloidotic polyneuropathy",
"TTR amyloid infiltration",
"microvascular disease",
"systemic disease",
"Carpal tunnel syndrome",
"cardiac amyloidosis"
] | [
"Val30Met mutation in the transthyretin gene"
] | [
"cardiovascular risk factors",
"exertional retrosternal pain",
"hypokinesis of the inferior wall",
"angina",
"ventricular tachycardia",
"slow flow, a dominant right coronary artery with non-obstructive atherosclerosis and a left anterior descending artery with intermediate lesions in mid and distal segmen... | [
"calcium channel blockers and transdermal nitrate",
"dual chamber pacemaker was implanted"
] | null | null | [
"resting echocardiogram was unremarkable"
] |
fac:33629008 | Wild-type transthyretin amyloid cardiomyopathy complicated by spinal canal stenosis, carpal tunnel syndrome, and rotator cuff tears: a case report. | [
"Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) is receiving increasing attention due to the availability of novel treatment options. Carpal tunnel syndrome (CTS) and lumbar spinal canal stenosis are known early symptoms of transthyretin (TTR) amyloidosis preceding the cardiac involvement and are consid... | [
"<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 Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM)",
"transthyretin (TTR) amyloidosis",
"transthyretin amyloid cardiomyopathy (ATTR-CM)",
"lumbar spinal canal stenosis",
"cardiac amyloidosis",
"ATTRwt-CM",
"CTS",
"ATTR-CM",
"ATTR-CM",
"ATTR-CM"
] | null | [
"Carpal tunnel syndrome (CTS)",
"lumbar spinal canal stenosis",
"cardiac involvement",
"lumbar spinal canal stenosis for the last 10 years",
"right rotator cuff tears for the last 4 years",
"bilateral CTS for the last 1 year",
"severe left ventricular hypertrophy",
"positive findings for ATTR-CM",
"... | [
"orthopaedic surgery",
"surgery"
] | null | [
"hypertroponinaemia"
] | [
"no transthyretin mutation on genetic testing"
] |
fac:33462057 | Strange case of biventricular heart failure. | [
"Acute heart failure (HF) is commonly caused by a cardiomyopathy with one or more precipitating factor. Here, a case in which a cardiomyopathy is precipitated by pulmonary embolism (PE). A 77-year-old man is admitted for breathlessness and leg swelling. A mild reduction of left ventricular (LV) ejection fraction 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 Acute heart failure (HF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Acute heart failure (HF)",
"cardiomyopathy",
"cardiomyopathy",
"infiltrative cardiomyopathy due to cardiac amyloidosis (CA)",
"PE",
"HF",
"cardiomyopathy",
"CA",
"Transthyretin amyloidosis (ATTR) cardiac amyloidosis"
] | null | [
"pulmonary embolism (PE)",
"breathlessness",
"leg swelling",
"mild reduction of left ventricular (LV) ejection fraction",
"moderately increased LV wall thickness",
"pulmonary hypertension",
"signs of congestion with bilateral leg swelling",
"mild signs of left HF",
"Mobitz I second-degree atrioventr... | null | null | null | [
"absence of pulmonary congestion on chest X-ray"
] |
fac:33442642 | A case report of an infiltrative cardiomyopathy in everyday practice: a specific cause that cannot be missed in the elderly. | [
"Transthyretin amyloid cardiomyopathy (ATTR-CM) is a commonly misdiagnosed cardiac condition due to low disease awareness and perceived rarity, which frequently results in incorrect management and poor outcomes. Early and prompt diagnosis has become critical with emerging therapies that improve patient survival.",
... | [
"<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 Transthyretin amyloid cardiomyopathy (ATTR-CM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Transthyretin amyloid cardiomyopathy (ATTR-CM)",
"cardiac condition",
"cardiac amyloidosis",
"ATTR-CM",
"hypertensive heart disease",
"ATTR-CM",
"ATTR-CM",
"ATTR-CM"
] | null | [
"acute decompensated heart failure",
"recurrent hospitalizations for the same issue over the past several months",
"severe concentric left ventricular hypertrophy",
"grade III diastolic dysfunction",
"QRS voltage by 12-lead electrocardiogram (ECG) was discordant with the degree of left ventricular hypertrop... | [
"implantable cardioverter-defibrillator implantation",
"aggressive diuresis",
"tafamidis"
] | null | null | [
"recurrent non-sustained ventricular tachycardia",
"immunofixation were within normal limits",
"without the need for an endomyocardial biopsy"
] |
fac:33425523 | A Cardiac Amyloidosis Presentation: Atrial Mass Versus Thrombus. | [
"Cardiac neoplasms are a rare finding of which a cardiac myxoma is the most commonly encountered. Therefore, a density identified in the left atrium commonly leads to the presumptive diagnosis of an atrial myxoma. However, other pathologies, such as atrial thrombi, can mimic in clinical presentation and appearance ... | [
"<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 Cardiac neoplasms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Cardiac neoplasms",
"cardiac myxoma",
"atrial myxoma",
"age-related amyloidosis"
] | null | [
"density identified in the left atrium",
"atrial thrombi",
"myxoma",
"obstructive symptoms",
"syncope",
"palpitations",
"sudden cardiac death",
"atrial thrombi",
"syncopal episodes",
"incidental intracardiac density"
] | null | null | null | null |
fac:33281182 | Sustained Ventricular Tachycardia as a Harbinger of Cardiac Amyloidosis. | [
"BACKGROUND Cardiac amyloidosis is an infiltrative cardiomyopathy caused by the extracellular deposition of insoluble precursor protein amyloid fibrils. These depositions of protein amyloid fibrils are found on the atria and ventricles and can cause a wide array of arrhythmias; however, sustained ventricular arrhyt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Cardiac amyloidosis",
"infiltrative cardiomyopathy",
"cardiac amyloidosis",
"transthyretin amyloidosis",
"cardiac amyloidosis"
] | null | [
"arrhythmias",
"sustained ventricular arrhythmias",
"hypertension",
"sudden onset of shortness of breath",
"profuse diaphoresis",
"lightheadedness",
"presyncope",
"wide complex tachycardia with a heart rate of 220 to 230 beats per min",
"ongoing symptoms of diaphoresis",
"development of dyspnea",
... | [
"magnesium, adenosine, and amiodarone",
"direct current cardioversion",
"tafamidis and an implantable cardioverter-defibrillator"
] | null | null | [
"no change in heart rate or rhythm",
"no prior history of heart disease"
] |
fac:33224643 | Suspecting Cardiac Amyloidosis in Congestive Heart Failure. | [
"Amyloidosis is a rare multisystem disease due to deposition of abnormal protein fragments, and cardiac amyloidosis is progressive and difficult to diagnose due to its subtle and non-specific symptoms unless the physician maintains a high degree of suspicion. This case report focuses on amyloid deposition in the he... | [
"<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 Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"rare multisystem disease",
"cardiac amyloidosis"
] | null | [
"symptoms of uncompensated heart failure"
] | null | null | null | [
"non-specific symptoms"
] |
fac:33188503 | Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis. | [
"Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in t... | [
"<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 Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN)\n <span style=\"font-size: 0.8em; font-... | [
"Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN)",
"multi-organ disorder",
"Pompe disease",
"ATTR amyloidosis",
"late-onset Pompe disease",
"cardiomyopathy"
] | [
"autosomal dominant",
"autosomal recessive disease"
] | [
"distal and painful sensory loss of the lower limbs",
"autonomic dysregulation",
"Motor neuropathy",
"cardiomyopathy",
"proximal muscle weakness",
"distal, painful hypaesthesia of both legs",
"muscle weakness in the form of a girdle-type pattern of the arms and legs at the beginning and a spreading to d... | null | null | [
"decreased levels of lysosomal enzyme acid α-glucosidase"
] | null |
fac:33175723 | Cardiac Amyloidosis Detected on Imaging of Patients with Heart Failure. | [
"BACKGROUND Amyloidosis is a multisystem disease caused by deposition of dysfunctional protein-amyloid-in various organs. The heart is commonly involved, especially in primary (AL) and transthyretin (ATTR) amyloidosis. Most patients present with restrictive cardiomyopathy along with other systemic features of amylo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Amyloidosis",
"multisystem disease",
"primary (AL) and transthyretin (ATTR) amyloidosis",
"amyloidosis",
"cardiac amyloidosis (CA)",
"amyloidosis",
"AL",
"ATTR amyloidosis",
"CA",
"AL amyloidosis",
"amyloid deposition disease",
"amyloidosis",
"CA"
] | null | [
"heart",
"restrictive cardiomyopathy",
"systemic features of amyloid deposition",
"of systolic dysfunction",
"advanced heart failure",
"subtle clinical signs of amyloidosis",
"classic nonspecific echo signs",
"novel parameters of systolic dysfunction",
"amyloidosis",
"Severe diastolic heart failur... | null | null | null | [
"invasive testing is not desirable"
] |
fac:33133314 | A case of cardiac amyloidosis in an elderly Japanese patient with amyloidogenic transthyretin Val122Ile variant. | [
"A 76-year-old Japanese man with a history of stomach cancer and chronic atrial fibrillation was referred to our department with left atrial thrombus. He had a history of gastric amyloidosis diagnosed by a pathological specimen of the stomach; however, further examination for amyloidosis was not performed. The pati... | [
"<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 76-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"stomach cancer",
"gastric amyloidosis",
"cardiac amyloidosis",
"transthyretin amyloidosis (ATTR amyloidosis)",
"hereditary amyloidosis",
"Transthyretin amyloidosis (ATTR) Val122Ile variant",
"ATTR Val122Ile variant",
"ATTR cardiac amyloid"
] | [
"heterozygous Val122Ile mutation",
"ATTR Val122Ile",
"mutations in TTR",
"ATTR Val122Ile mutation",
"ATTR Val122Ile variant",
"transthyretin gene mutations",
"gene mutation"
] | [
"chronic atrial fibrillation",
"left atrial thrombus",
"clinical signs and symptoms of heart failure",
"thick left ventricular wall",
"severe cardiomyopathy"
] | null | [
"Japanese",
"African-American",
"Asian",
"Japan",
"Asian",
"Japan",
"Asian"
] | null | [
"amyloidosis",
"was not performed",
"no mutations were noted",
"without apparent family history of amyloidosis"
] |
fac:33121442 | Negative bone scintigraphy in wild-type transthyretin cardiac amyloidosis. | [
"Amyloidosis is a rare systemic disease due to the extracellular tissue deposition of a fibrillar-shaped misfolded protein, called amyloid. Only two types of proteins commonly affect the heart leading to an infiltrative cardiomyopathy: immunoglobulin light chain and transthyretin (TTR) cardiac amyloidosis (CA). Des... | [
"<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 Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"systemic disease",
"infiltrative cardiomyopathy",
"immunoglobulin light chain and transthyretin (TTR) cardiac amyloidosis (CA)",
"TTR-CA",
"TTR-CA",
"CA"
] | [
"hereditary form"
] | [
"cardiac comorbidities",
"relapse of heart failure",
"bilateral carpal tunnel syndrome",
"concomitant cardiac comorbidities"
] | [
"specific treatment"
] | null | null | [
"false negative results",
"conflicting results of imaging modalities",
"bone scintigraphy was negative",
"negative Bone Scintigraphy and Congo red staining",
"misdiagnosed",
"low specific clinical manifestations"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.