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Facioscapulohumeral muscular dystrophy — SCE Neurology MCQ

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HardNeuromuscularFacioscapulohumeral muscular dystrophySCE Neurology

A 28-year-old man has slowly progressive difficulty whistling and lifting objects overhead. Examination shows facial weakness, scapular winging and asymmetric humeral weakness with preserved ocular movements. CK is mildly raised. His mother has similar shoulder weakness. What is the most likely diagnosis?

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Correct answer: C — Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy is the best answer. Facial weakness, scapular winging, humeral predominance, asymmetry and autosomal dominant family history indicate FSHD. Duchenne presents in childhood; myotonic dystrophy has myotonia and systemic features; oculopharyngeal disease causes ptosis/dysphagia; myasthenia is fatigable with normal CK. Clinical pearl: FSHD is often asymmetric, which helps separate it from many limb-girdle dystrophies.

Reference: GeneReviews FSHD; Neurology 2022 Curriculum