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Medicine General 1a5c5801

A young adult presents with proximal weakness of upper limbs, features of facial palsy and winging of scapula. The most likely diagnosis is:

A
Facio-Scapulo-Humeral Dystrophy
B
Limb-Girdle Dystrophy
C
Scapuloperoneal Dystrophy
D
Duchene Muscular Dystrophy
High-Yield Explanation
Answer is A (Facio-Scapulo-Humeral Dystrophy): Weakness preferentially affecting the facial and shoulder girdle (proximal weakness of upper limb) together with winging of scapula in a young adult suggests a diagnosis of facio-scapulo-humeral dystrophy. Autosomal Dominant (Positive Family History(2) Abnormal gene 4q (4q35 deletion) Childhood to young adulthood (may be delayed to 5th decade) Mild 1st CPK (Normal Dystrophy)

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