Lecture Notes

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy characterized by progressive, often asymmetrical muscle weakness involving the face, scapular region, and limb girdle muscles. 

Clinical features

• Primary Symptoms:
  • Wasting of shoulder girdle with scapular winging.
  • Facial involvement: inability to purse lips, close eyes tightly, transverse smile.
  • Weakness in lower limbs often leads to foot drop.
  • Hip girdle weakness is variable.

  • Respiratory Function: Generally normal, with rare significant involvement.

  • Age of Onset:

    • Most cases manifest in the second decade.
    • Infantile (early-onset) FSHD (~4–5% of cases): severe presentation with early loss of ambulation, restrictive lung disease, cardiac arrhythmias, cognitive deficits, and retinal vasculopathy.

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