This site is intended for healthcare professionals
Login | Register (NOW FREE)

Medical search

facioscapulohumeral dystrophy

FREE subscriptions for doctors and students... click here
You have 3 open access pages.

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


The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions. Copyright 2016 Oxbridge Solutions LtdĀ®. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions LtdĀ® receives funding from advertising but maintains editorial independence. GPnotebook stores small data files on your computer called cookies so that we can recognise you and provide you with the best service. If you do not want to receive cookies please do not use GPnotebook.