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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