A 14-year-old girl presents with quadriparesis, facial palsy, winging of scapula and ptosis. There is h/o similar illness in father and brother but less severe. Her CPK level is also raised (500IU/L). She is probably suffering from?
Correct Answer: Scapulofaciohumeral dystrophy
Description: Facial muscle involvement is not seen with Becker and Limb-girdle muscular dystrophy Emery Dreifuss and Becker are XLR disease so can't be present in a girl child. Hence by exclusion the diagnosis is Dx: Scapulo-Faciohumeraldystrophy. Facio-Scapulo-humeral dystrophy Autosomal dominant inheritance and has an onset in childhood or young adulthood. Facial weakness is the initial manifestation-->inability to smile, whistle or fully close the eyes. Weakness of the shoulder girdles-->makes arm elevation difficult. Scapular winging becomes apparent with attempts at abduction and forward movement of the arms. The serum CK level may be normal or mildly elevated. No specific treatment is available, ankle-foot ohoses are helpful for foot-drop.
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