Clinical Features of Facioscapulohumeral Muscular Dystrophy (FSHD)

A 90-year-old woman has always looked younger than her age. For the past few years, she has had trouble wearing her purse on her shoulder, and now wears a cross-body bag. She has trouble keeping her bra straps on her shoulders. She has a transverse smile, no forehead wrinkles, and mild forward sloping of her shoulders. Serum CK was normal. Genetic testing revealed a deletion on chromosome 4q35 [1], consistent with FSHD. Early involvement of the facial muscles results in a distinctive clinical presentation and may contribute to reduced facial wrinkles. Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy [2]. With widespread availability of genetic testing and clinical trials, a firm understanding of the typical clinical features [3] and muscle involvement in individuals with FSHD is necessary to ensure accurate and early diagnosis (Figure 1).