Fascioscapulohumeral muscular 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