facioscapulohumeral dystrophy

Facioscapulohumeral dystrophy is a muscular dystrophy with an autosomal dominant inheritance. It is very variable in extent and severity, even within a given family. Creatinine phosphokinase is often normal.

Characteristic features include:

• weakness:
• presents in the the second or third decade
• predominantly facial, periscapular, humeral
• the facial appearance is characteristic with an unlined face, pouting lips and transverse smile
• on abduction of the arms there is a characteristic elevation of the scapulae

• muscle hypertrophy is rare and contractures and deformity are unusual

• the severity of the illness is related to the age of onset:
• the earlier the onset, the more severe the illness
• there is a normal lifespan

• fetal myoglobin and sarcolemma are increased; adult myoglobin is reduced