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