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Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene. … …
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 … body systems. … Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause … progressive muscle degeneration and weakness. … Spinal muscular atrophy is a group of inherited disorders that cause … Genetics Home Reference: Spinal Muscular Atrophy Muscular Dystrophy Association - USA NORD: Spinal Muscular Atrophy …
Talking Glossary
La enfermedad de Huntington es un trastorno hereditario raro que se asocia con la pérdida progresiva de la función cerebral y muscular.
… asocia con la pérdida progresiva de la función cerebral y muscular. … Huntington’s disease is a rare inherited disorder … asocia con la pérdida progresiva de la función cerebral y muscular. … Talking Glossary …
Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
… of rod cells. These forms of RP, sometimes called rod-cone dystrophy, usually begin with night blindness. Night … their life. Other forms of RP, sometimes called cone-rod dystrophy, first affect central vision. Patients first … Rods And Cones, Night Blindness, Tunnel Vision, Cone-rod Dystrophy … Retinitis pigmentosa is a group of inherited eye …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly progressive … also looks at how these interactions are perturbed in muscular dystrophy and other muscle disorders. Their overriding goal - …
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.
… system (See: Learning About Huntington's Disease ); and muscular dystrophies, which affect the muscles (See: Learning About Duchenne Muscular Dystrophy ). Single genes are also responsible for some rare, …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… inherited disorders such as cystic fibrosis and Duchenne muscular dystrophy. Genetic maps are also useful in guiding scientists …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… other genetic disorders, including two rare forms of muscular dystrophy. In addition to its implications for diagnosis and …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… Syndrome More Progress Toward Gene Editing for Kids with Muscular Dystrophy Pregnant Women Want Physicians' Advice on Receiving …