This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Go to /pro/cpd-dashboard page

This page is worth 0.05 CPD credits. CPD dashboard

Go to /account/subscription-details page

This page is worth 0.05 CPD credits. Upgrade to Pro

Fascioscapulohumeral muscular dystrophy

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.