A young man presented with a long history of gradually progressive muscle weakness. On examination, proximal weakness is noted.Facial and extra-occular muscles are normal.He has old HPE repo which showed the normal dystrophin expression in the sample of his muscle biopsy. Family history is significant as similar illness pattern in noted in father and grandfather as well. What could be the provisional diagnosis?
Correct Answer: Limb girdle muscular dystrophy.
Description: Facial muscle sparing r/o Myotonic dystrophy Dystrophin presence rules out BMD and DMD. FACIOSCAPULOHUMERAL (FSH) MUSCULAR DYSTROPHY Clinical Features Childhood or young adulthood. facial weakness Loss of scapular muscles: arm elevation difficult with Scapular winging. TREATMENT Facioscapulohumeral Muscular Dystrophy No specific treatment is available ankle-foot ohoses Scapular stabilization procedures .
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