Abstract

A 21-year-old Brazilian woman presented with mild facial muscle weakness, scapular winging and an asymmetric shoulder girdle, and peroneal weakness. Medical history disclosed mildly symptomatic Coats disease (CD) (figure). Muscle MRI studies were highly suggestive of facioscapulohumeral muscular dystrophy type 1 (FSHD1) (figure) and genetic testing confirmed this diagnosis.

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