Facioscapulohumeral muscular dystrophy

Disease Overview

Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern.[5899]

Synonyms

• FSHD
• Muscular dystrophy, facioscapulohumeral
• Facioscapulohumeral muscular dystrophy 1A
• FSHMD1A
• Muscular dystrophy, facioscapulohumeral, type 1a
• FSHD1A
• Landouzy-Dejerine muscular dystrophy