Facioscapulohumeral muscular dystrophy

Last revised by Dr Arnab K Rana on 28 Jun 2018

Facioscapulohumeral muscular dystrophy (FSHD) is a form of muscular dystrophy characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement.

It is considered one of the more common hereditary muscular disorders with a prevalence of ~1 in 8,000.

Initially there may be a restricted pattern of weakness with early involvement of the facial and scapular stabilizer muscles and with a descending course resulting in later involvement of either the distal anterior leg or hip-girdle muscles.

It carries an autosomal dominant inheritance.

Two types have been described:

  • type I (95%): associated with a decreased number of D4Z4 repeats on chromosome 4q35 3
  • type II (5%): no associated deletions 7

MRI is considered sensitive and may show a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles.

The most frequently affected muscles are trapezius, teres major and serratus anterior. Asymmetric muscle involvement maybe significantly higher in FSHD as compared to non-FSHD 1.

Whole body MRI may be useful to assess the pattern of muscle involvement.

Its severity and disease course can vary considerably. 

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