Facioscapulohumeral muscular dystrophy: A form of muscular dystrophy that typically begins before age 20 with slowly progressive weakness of the muscles of the face, shoulders, and feet. The severity of the disease is quite variable. Although most people with facioscapulohumeral muscular dystrophy (FSHD) retain the ability to walk, about 20% require a wheelchair. Life expectancy is not shortened.
The diagnosis can be confirmed by a DNA test disclosing the deletion of copies of a repeat motif called D4Z4 on chromosome 4. FSHD is inherited in an autosomal dominant manner. Offspring of an affected individual have a 50% chance of inheriting the mutant chromosome 4. About 10-30% of cases are due to a new mutation. Prenatal testing is available.
The FacioScapuloHumeral Muscular Dystrophy Society, Inc. (FSH Society, Inc.) is a National, voluntary health organization dedicated to improving the lives of people with ...
n. A benign inherited form of dystrophy beginning in childhood and characterized by wasting and weakness primarily of the muscles of the face, shoulder girdle , and ...
Disease characteristics. Facioscapulohumeral muscular dystrophy (FSHD) typically presents before age 20 years with weakness of the facial muscles and the stabilizers of ...
Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the ...
Facioscapulohumeral muscular dystrophy affects the upper body, unlike Duchenne muscular dystrophy and Becker muscular dystrophy, which affect the lower body.