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Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. … Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body … that affects the muscles and other body systems. … Genetic Disorders …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. Genetic … causes tremor and/or stiffness in movement … Genetic Disorders …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in … caused by a mutation in the FMR1 gene. … Genetic Disorders …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… is an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol beginning at … Association - Cholesterol National Organization for Rare Disorders Online Mendelian Inheritance in Man eMedicine … at birth and heart attacks at an early age. … Genetic Disorders …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead … cirrhosis, acute liver failure or other serious liver disorders, a liver transplant may be the only option for … Gene Tests Genetic Alliance National Organization for Rare Disorders Finding Reliable Health Information Online … What …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… tumors that occur chiefly in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common … in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined Immunodeficiency … or SCID, is a term applied to a group of inherited disorders characterized by defects in both T and B cell … severe, genetic condition of the immune system. … Genetic Disorders …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's … The most common symptom is infertility. … Genetic Disorders …
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the … of the fingers of the hand on the same side. … Genetic Disorders …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… The Natural History Study of Patients with GNE Myopathy collects genetic and medical … from people with GNE Myopathy and other GNE-related disorders . Patients are followed over time to understand the … Genetics Home Reference: Inclusion body myopathy 2  Neuromuscular Disease Foundation (NDF)  Treat-NMD …