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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:
- 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
Last reviewed 01/2018