Search Results
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of … scoliosis (curvature of the spine). People with CMT disease usually begin to experience symptoms in adolescence …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … Parkinson's disease (PD) is a neurological condition that typically … likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genetic testing is the use of a laboratory test to examine an …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … Gaucher disease is an autosomal recessive inherited disorder of … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the … functioning. There are three recognized Types of Gaucher disease and each has a wide range of symptoms. Type 1 is the …
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.
… Dercum disease is a rare condition that is characterized by … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long … times) or continuous, and worsens with movement. Dercum disease is often associated with generalized weakness, …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients who have Parkinson's disease, a neurodegenerative movement disorder. Individuals …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … Crohn's disease, an idiopathic (of unknown cause), chronic … of bowel between inflamed areas). Complications of Crohn's disease include: blockage of the intestine; sores and ulcers …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … in a single gene. Such diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … Huntington's disease (HD) is an inherited neurological illness causing … lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study inheritance patterns in families, including genetic studies of onset age, inheritance patterns and …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic Information Nondiscrimination Act, DNA, Healthcare … Genetic discrimination. Genetic discrimination refers to the …