Fascioscapulohumeral Myopathy FSH

Synonyms:

a.k.a. Landuzy-Dejerine disease

Muscle biopsy:

3 patterns

  • Pseudoneurogenic: atrophied angulated fibres in nests
  • Dystrophic: whorled fibres, moth eaten fibres, lobulated fibres. Endomysial fibrosis.
  • Pseudomyositic: inflammatory cellular mononuclear infiltrates

Diagnosis:

Genetic analysis (blood test): deletion at 4q35. i.e. deletion of the telomeric region

Genetics:

Genetic analysis (blood test): deletion at 4q35. i.e. deletion of the telomeric region

Clinical features:

Onset 10-40 years old
Facial weakness (Bell’s phenomenon)
+/- Shoulder girdle weakness:

  • Serratus anterior (Winging of scapula), pectoralis and trapezius
  • With relative sparing of deltoids and forearms (Popeye arms).
  • Preserved lower limbs
  • Congenital absence of pectoralis, biceps or brachialis may occur, forearm pseudohypertrophy may occur

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