Facioscapulohumeral Dystrophy

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant disorder resulting in a characteristic pattern of muscular weakness. Weakness mainly affects facial and upper girdle muscles, going on to the lower girdle, as the disease advances. Scapular winging and riding are prominent and often asymmetrical. Periods of rapid worsening followed by stabilization are known, CK is much elevated during the phases of deterioration and muscle biopsy may show elements of inflammation. Two genetic forms have been identified and anticipation is common. Albuterol, corticosteroids, and diltiazem have been used with variable results. Scapular fixation in carefully selected subjects can lead to functional benefits.