(FSHMD1A) Facioscapulohumeral Muscular Dystrophy 1A
• Cell line states: affected
• Defects in FSHMD1A causes facioscapulohumeral muscular dystrophy, the third most common hereditary disease of muscle after Duchenne and myotonic dystrophy. It is a highly variable disorder with weakness appearing from infancy to late life but typically in the second decade. In general, the disease initially involves the face and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles.