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What are the symptoms of Glanzmann thrombasthenia ?
What are the signs and symptoms of Glanzmann thrombasthenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Glanzmann thrombasthenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Med...
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How many people are affected by pyridoxal 5'-phosphate-dependent epilepsy ?
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; approximately 14 cases have been described in the scientific literature.
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What is (are) familial isolated hyperparathyroidism ?
Familial isolated hyperparathyroidism is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism). The four parathyroid glands are located in the neck, and they release a hormone called parathyroid hormone that regulates the amount of calcium in the blood. In familial isolate...
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Is Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant inherited ?
This condition has an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all reported cases have resulted from new mutations in the gene and have occurred in people with no history of the disorder in their family.
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What to do for What I need to know about Hepatitis C ?
If you have chronic hepatitis C, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.
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How to diagnose Liddle syndrome ?
How is Liddle syndrome diagnosed? A diagnosis of Liddle syndrome may first be suspected by the detection of early-onset hypertension (high blood pressure), especially in the presence of family history. The diagnosis may then be confirmed by special blood and urine tests which show hypokalemia (low blood potassium level...
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What causes Omenn syndrome ?
What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in th...
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What to do for Kidney Stones in Children ?
Families may benefit from meeting with a dietitian to learn how dietary management can help in preventing stones. Depending on the underlying cause of the stone formation, medications may be necessary to prevent recurrent stones. Dietary changes and medications may be required for a long term or, quite often, for life....
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How many people are affected by infantile neuronal ceroid lipofuscinosis ?
The incidence of infantile NCL is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected.
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What is (are) Laing distal myopathy ?
Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping w...
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What are the treatments for citrullinemia ?
These resources address the diagnosis or management of citrullinemia: - Baby's First Test: Citrullinemia, Type I - Baby's First Test: Citrullinemia, Type II - Gene Review: Gene Review: Citrin Deficiency - Gene Review: Gene Review: Citrullinemia Type I - Gene Review: Gene Review: Urea Cycle Disorders Overview - Ge...
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What are the genetic changes related to biotin-thiamine-responsive basal ganglia disease ?
Biotin-thiamine-responsive basal ganglia disease is caused by mutations in the SLC19A3 gene. This gene provides instructions for making a protein called a thiamine transporter, which moves thiamine into cells. Thiamine, also known as vitamin B1, is obtained from the diet and is necessary for proper functioning of the n...
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What is (are) Color Blindness ?
Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in ...
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Is autoimmune Addison disease inherited ?
A predisposition to develop autoimmune Addison disease is passed through generations in families, but the inheritance pattern is unknown.
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How to diagnose Hereditary sensory neuropathy type 1 ?
Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific loca...
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What causes Adrenal Insufficiency and Addison's Disease ?
A lack of CRH or ACTH causes secondary adrenal insufficiency. The lack of these hormones in the body can be traced to several possible sources. Stoppage of Corticosteroid Medication A temporary form of secondary adrenal insufficiency may occur when a person who has been taking a synthe...
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What are the symptoms of Charlie M syndrome ?
What are the signs and symptoms of Charlie M syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Charlie M syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction...
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What is (are) SYNGAP1-related intellectual disability ?
SYNGAP1-related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically delayed development of speech and motor skills, such as sitting, standing, and walking. Many people with this condition h...
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What is (are) Quitting Smoking for Older Adults ?
One of the keys to successfully quitting is preparation. A great way to prepare to quit smoking is to create a quit plan. Quit plans - keep you focused on quit smoking strategies that can help you be confident and motivated to quit - help you identify challenges you will face as you quit and ways to overcome them -...
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What are the symptoms of Familial esophageal achalasia ?
What are the signs and symptoms of Familial esophageal achalasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial esophageal achalasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medli...
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What are the treatments for cold-induced sweating syndrome ?
These resources address the diagnosis or management of cold-induced sweating syndrome: - Gene Review: Gene Review: Cold-Induced Sweating Syndrome including Crisponi Syndrome - Genetic Testing Registry: Cold-induced sweating syndrome 1 - Genetic Testing Registry: Cold-induced sweating syndrome 2 - Merck Manual Consu...
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What are the symptoms of Duodenal ulcer due to antral G-cell hyperfunction ?
What are the signs and symptoms of Duodenal ulcer due to antral G-cell hyperfunction? The Human Phenotype Ontology provides the following list of signs and symptoms for Duodenal ulcer due to antral G-cell hyperfunction. If the information is available, the table below includes how often the symptom is seen in people wi...
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What is (are) Microcephalic osteodysplastic primordial dwarfism type 1 ?
Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs a...
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What are the treatments for Neurofibromatosis ?
Treatment may include surgery, focused radiation, or chemotherapy. Surgery to remove NF2 tumors completely is one option. Surgery for vestibular schwannomas does not restore hearing and usually reduces hearing. Sometimes surgery is not performed until functional hearing is lost completely. Surgery may result in damage ...
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Is inclusion body myopathy with early-onset Paget disease and frontotemporal dementia inherited ?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no histor...
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Is Branchiootorenal syndrome inherited ?
Is branchiootorenal syndrome inherited? Branchiootorenal syndrome may be inherited or occur sporadically. The inheritance pattern of branchiootorenal syndrome is autosomal dominant. Autosomal dominant inheritance is when one mutated copy of the gene that causes a disorder in each cell is needed for a person to be affec...
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What are the treatments for ring chromosome 14 syndrome ?
These resources address the diagnosis or management of ring chromosome 14 syndrome: - Genetic Testing Registry: Ring chromosome 14 - MedlinePlus Encyclopedia: Chromosome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th...
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What causes Hereditary diffuse leukoencephalopathy with spheroids ?
What causes hereditary diffuse leukoencephalopathy with spheroids (HDLS)? HDLS is caused by mutations in the CSF1R gene. This gene provides instructions for making a protein called colony stimulating factor 1 receptor (CSF-1 receptor), which is found in the outer membrane of certain types of cells. The CSF-1 receptor t...
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what research (or clinical trials) is being done for Acid Lipase Disease ?
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge abut the brain and nervous system, and to use that knowledge to reduce the burden of neurological diseaset. The NINDS conducts and supports research to understand lipid storage diseases such as acid lipas...
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What are the symptoms of Spinocerebellar ataxia 21 ?
What are the signs and symptoms of Spinocerebellar ataxia 21? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 21. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M...
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Is Barrett esophagus inherited ?
Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination...
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What is (are) Kuskokwim disease ?
Kuskokwim disease is a congenital (present at birth) contracture disorder that occurs solely among Yup'ik Eskimos in and around the Kuskokwim River delta region of southwest Alaska. Affected individuals usually, but not always, have congenital contractures of large joints (especially knees and/or elbows) and spinal, pe...
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How many people are affected by Jervell and Lange-Nielsen syndrome ?
Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 to 6 per 1 million people worldwide. This condition has a higher prevalence in Denmark, where it affects at least 1 in 200,000 people.
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What is (are) Congenital mirror movement disorder ?
Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughou...
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What are the treatments for Stve-Wiedemann syndrome ?
These resources address the diagnosis or management of Stve-Wiedemann syndrome: - Genetic Testing Registry: Stuve-Wiedemann syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation -...
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What is (are) Bladder Diseases ?
The bladder is a hollow organ in your lower abdomen that stores urine. Many conditions can affect your bladder. Some common ones are - Cystitis - inflammation of the bladder, often from an infection - Urinary incontinence - loss of bladder control - Overactive bladder - a condition in which the bladder sque...
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What are the genetic changes related to oculocutaneous albinism ?
Oculocutaneous albinism can result from mutations in several genes, including TYR, OCA2, TYRP1, and SLC45A2. Changes in the TYR gene cause type 1; mutations in the OCA2 gene are responsible for type 2; TYRP1 mutations cause type 3; and changes in the SLC45A2 gene result in type 4. Mutations in additional genes likely u...
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How many people are affected by Camurati-Engelmann disease ?
The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide.
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Is Neonatal progeroid syndrome inherited ?
Is neonatal progeroid syndrome inherited? Although the underlying genetic cause of neonatal progeroid syndrome is unknown, studies suggest that it is likely inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The ...
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What are the symptoms of Osteosclerosis with ichthyosis and premature ovarian failure ?
What are the signs and symptoms of Osteosclerosis with ichthyosis and premature ovarian failure? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteosclerosis with ichthyosis and premature ovarian failure. If the information is available, the table below includes how often the sympto...
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What is (are) familial restrictive cardiomyopathy ?
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart...
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What are the treatments for Coffin-Siris syndrome ?
How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the sympt...
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What are the treatments for Depression ?
A bushy, wild-growing plant with yellow flowers, St John's wort has been used for centuries in many folk and herbal remedies. It is commonly used in Europe to treat mild depression, and it is a top-seller in the United States as well. In a study funded by the National Institutes of Health, the herb was found to be no m...
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What is (are) Dislocations ?
Dislocations are joint injuries that force the ends of your bones out of position. The cause is often a fall or a blow, sometimes from playing a contact sport. You can dislocate your ankles, knees, shoulders, hips, elbows and jaw. You can also dislocate your finger and toe joints. Dislocated joints often are swollen, v...
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What are the genetic changes related to beta-ureidopropionase deficiency ?
Beta-ureidopropionase deficiency is caused by mutations in the UPB1 gene, which provides instructions for making an enzyme called beta-ureidopropionase. This enzyme is involved in the breakdown of molecules called pyrimidines, which are building blocks of DNA and its chemical cousin RNA. The beta-ureidopropionase enzy...
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How many people are affected by X-linked agammaglobulinemia ?
XLA occurs in approximately 1 in 200,000 newborns.
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How many people are affected by Laing distal myopathy ?
Although Laing distal myopathy is thought to be rare, its prevalence is unknown. Several families with the condition have been identified worldwide.
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Is X-linked spondyloepiphyseal dysplasia tarda inherited ?
X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who ...
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Who is at risk for Wilms Tumor and Other Childhood Kidney Tumors? ?
Having certain genetic syndromes or other conditions can increase the risk of Wilms tumor. Anything that increases the risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Ta...
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What causes Inflammatory myofibroblastic tumor ?
What causes inflammatory myofibroblastic tumors? The underlying cause of inflammatory myofibroblastic tumors (IMTs) remains unknown. While some researchers believe it is a true neoplasm, others believe that it represents an immunologic response to an infectious or noninfectious agent. Several associations have been rep...
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Is Split hand split foot nystagmus inherited ?
How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Some...
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How to diagnose Pityriasis lichenoides chronica ?
How is pityriasis lichenoides chronica diagnosed? The clinical appearance of pityriasis lichenoides chronica suggests the diagnosis. However, since it can look like psoriasis, lichen planus, or the common bug bite, a skin biopsy is recommended to confirm the diagnosis. A dermatologist is the type of specialist who is m...
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what research (or clinical trials) is being done for Primary CNS Lymphoma ?
New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. High-dose chemotherapy with ...
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What are the symptoms of Progressive hemifacial atrophy ?
What are the signs and symptoms of Progressive hemifacial atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive hemifacial atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Med...
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What are the treatments for FG syndrome ?
How might FG syndrome be treated? Treatment is aimed at addressing the individual symptoms present in each case. This often involves care by a team of providers which may include pediatricians, neurologists, cardiologists, surgeons, gastroenterologists, and psychologists. Early intervention and special education servic...
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What is (are) Chronic Myeloproliferative Neoplasms ?
Key Points - Myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. - There are 6 types of chronic myeloproliferative neoplasms. - Tests that examine the blood and bone marrow are used to detect (find) and...
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What are the genetic changes related to Proteus syndrome ?
Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and other cells will not. This mixture of cells with ...
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What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?
The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS var...
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What are the treatments for aspartylglucosaminuria ?
These resources address the diagnosis or management of aspartylglucosaminuria: - Genetic Testing Registry: Aspartylglycosaminuria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Ge...
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What are the symptoms of Hydrolethalus syndrome ?
What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical...
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Is Pyruvate dehydrogenase deficiency inherited ?
How is pyruvate dehydrogenase deficiency inherited? Pyruvate dehydrogenase deficiency is most commonly caused by mutations in the E1 alpha gene, which is located on the X chromosome (one of the sex chromosomes) and is typically inherited in an X-linked dominant manner. Dominant inheritance occurs when an abnormal gene ...
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What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?
Autonomic neuropathy affects the nerves that control the heart, regulate blood pressure, and control blood glucose levels. Autonomic neuropathy also affects other internal organs, causing problems with digestion, respiratory function, urination, sexual response, and vision. In addition, the system that restores blood g...
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How many people are affected by spinal muscular atrophy with progressive myoclonic epilepsy ?
SMA-PME is a rare disorder; approximately a dozen affected families have been described in the scientific literature.
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What are the treatments for Osteochondritis dissecans ?
How might osteochondritis dissecans be treated? The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity ...
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How many people are affected by lactose intolerance ?
Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns. Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy....
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What are the treatments for familial cold autoinflammatory syndrome ?
These resources address the diagnosis or management of familial cold autoinflammatory syndrome: - Genetic Testing Registry: Familial cold autoinflammatory syndrome 2 - Genetic Testing Registry: Familial cold urticaria These resources from MedlinePlus offer information about the diagnosis and management of various h...
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What are the genetic changes related to lysinuric protein intolerance ?
Mutations in the SLC7A7 gene cause lysinuric protein intolerance. The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting lysine, arginine, and ornithine between cells in the body. The transportation of amino acids from the small int...
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How many people are affected by STING-associated vasculopathy with onset in infancy ?
The prevalence of this condition is unknown. Only a few affected individuals have been described in the medical literature.
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What is (are) Limb-girdle muscular dystrophy ?
Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are ...
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What are the symptoms of Tuberous sclerosis, type 1 ?
What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus...
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What are the symptoms of Prosopagnosia, hereditary ?
What are the signs and symptoms of Prosopagnosia, hereditary? The Human Phenotype Ontology provides the following list of signs and symptoms for Prosopagnosia, hereditary. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus M...
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What is (are) Diabetic Kidney Disease ?
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys...
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What are the symptoms of Precocious puberty ?
What are the signs and symptoms of Precocious puberty? The Human Phenotype Ontology provides the following list of signs and symptoms for Precocious puberty. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Diction...
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What is (are) severe congenital neutropenia ?
Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutrop...
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What are the treatments for Best vitelliform macular dystrophy ?
How might Best vitelliform macular dystrophy be treated? There is no specific treatment for Best vitelliform macular dystrophy (BVMD) at this time. Low vision aids help affected people with significant loss of visual acuity. Laser photocoagulation, photodynamic therapy, and anti-VEGF (vascular endothelial growth factor...
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What are the treatments for Jackson-Weiss syndrome ?
These resources address the diagnosis or management of Jackson-Weiss syndrome: - Gene Review: Gene Review: FGFR-Related Craniosynostosis Syndromes - Genetic Testing Registry: Jackson-Weiss syndrome - MedlinePlus Encyclopedia: Craniosynostosis These resources from MedlinePlus offer information about the diagnosis a...
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What are the treatments for Prostate Cancer ?
Choosing Treatment There are a number of ways to treat prostate cancer, and the doctor will develop a treatment to fit each man's needs. The choice of treatment mostly depends on the stage of the disease and the grade of the tumor. But doctors also consider a man's age, general health, and his feelings about the treatm...
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what research (or clinical trials) is being done for Locked-In Syndrome ?
The NINDS supports research on neurological disorders that can cause locked-in syndrome. The goals of this research are to find ways to prevent, treat, and cure these disorders.
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What are the treatments for Hemolytic Anemia ?
Treatments for hemolytic anemia include blood transfusions, medicines, plasmapheresis (PLAZ-meh-feh-RE-sis), surgery, blood and marrow stem cell transplants, and lifestyle changes. People who have mild hemolytic anemia may not need treatment, as long as the condition doesn't worsen. People who have sev...
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What is (are) What I need to know about Lactose Intolerance ?
Lactose * intestine lactase , enzyme *See the Pronunciation Guide for tips on how to say the words in bold type.
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What is (are) Glutaric acidemia type III ?
Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal ra...
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Who is at risk for Adult Soft Tissue Sarcoma? ?
Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if ...
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What are the treatments for Coffin Lowry Syndrome ?
There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.
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What are the symptoms of Mental retardation X-linked, South African type ?
What are the signs and symptoms of Mental retardation X-linked, South African type? The Human Phenotype Ontology provides the following list of signs and symptoms for Mental retardation X-linked, South African type. If the information is available, the table below includes how often the symptom is seen in people with t...
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What are the symptoms of Prinzmetal's variant angina ?
What are the symptoms of Prinzmetal's variant angina? The main symptom of Prinzmetal's variant angina is chest pain (angina) with the following characteristics: Occurs under the chest bone Described as squeezing, constricting, tightness, pressure, crushing Is usually severe and may radiate to the neck, jaw, shoulder, o...
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What is (are) prolidase deficiency ?
Prolidase deficiency is a disorder that causes a wide variety of symptoms. The disorder typically becomes apparent during infancy. Affected individuals may have enlargement of the spleen (splenomegaly); in some cases, both the spleen and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration may a...
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How to diagnose Hemochromatosis ?
Health care providers use medical and family history, a physical exam, and routine blood tests to diagnose hemochromatosis or other conditions that could cause the same symptoms or complications. - Medical and family history. Taking a medical and family history is one of the first things a health care ...
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What is (are) Agnosia ?
Agnosia is a rare disorder characterized by an inability to recognize and identify objects or persons. People with agnosia may have difficulty recognizing the geometric features of an object or face or may be able to perceive the geometric features but not know what the object is used for or whether a face is familiar ...
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What are the treatments for Urinary Incontinence in Men ?
Treatment depends on the type of UI. Urgency Incontinence As a first line of therapy for urgency incontinence, a health care professional may recommend the following techniques to treat a mans problem: - behavioral and lifestyle changes - bladder training - pelvic fl...
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What are the treatments for hereditary leiomyomatosis and renal cell cancer ?
These resources address the diagnosis or management of HLRCC: - Gene Review: Gene Review: Hereditary Leiomyomatosis and Renal Cell Cancer - Genetic Testing Registry: Hereditary leiomyomatosis and renal cell cancer - MedlinePlus Encyclopedia: Renal Cell Carcinoma These resources from MedlinePlus offer information a...
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What is (are) Non-Small Cell Lung Cancer ?
Key Points - Non-small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are several types of non-small cell lung cancer. - Smoking is the major risk factor for non-small cell lung cancer. - Signs of non-small cell lung cancer include ...
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What are the treatments for dystonia 6 ?
These resources address the diagnosis or management of dystonia 6: - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Dystonia 6, torsion These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - ...
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What are the treatments for Noonan syndrome 2 ?
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi...
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What is (are) Compulsive Gambling ?
Many people enjoy gambling, whether it's betting on a horse or playing poker on the Internet. Most people who gamble don't have a problem, but some lose control of their gambling. Signs of problem gambling include - Always thinking about gambling - Lying about gambling - Spending work or family time gam...
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What are the symptoms of HurlerScheie syndrome ?
What are the signs and symptoms of HurlerScheie syndrome ? The Human Phenotype Ontology provides the following list of signs and symptoms for HurlerScheie syndrome . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical...
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What are the symptoms of Viral Hepatitis: A through E and Beyond ?
Symptoms include - jaundice, which causes a yellowing of the skin and eyes - fatigue - abdominal pain - loss of appetite - nausea - vomiting - diarrhea - low grade fever - headache However, some people do not have symptoms.
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What are the genetic changes related to galactosemia ?
Mutations in the GALT, GALK1, and GALE genes cause galactosemia. These genes provide instructions for making enzymes that are essential for processing galactose obtained from the diet. These enzymes break down galactose into another simple sugar, glucose, and other molecules that the body can store or use for energy. ...
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What are the treatments for Schizencephaly ?
How might schizencephaly be treated? The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physica...
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What are the symptoms of Juvenile myelomonocytic leukemia ?
What are the signs and symptoms of Juvenile myelomonocytic leukemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile myelomonocytic leukemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the...
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How many people are affected by Weyers acrofacial dysostosis ?
Weyers acrofacial dysostosis appears to be a rare disorder. Only a few affected families have been identified worldwide.
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