Isolated paraspinal myopathy: a distinct subtype of facioscapulohumeral muscular dystrophy

Fascioscapulhumeral muscular dystrophy (FSHD) is inherited as an autosomal dominant trait and is characterized by facial and shoulder girdle weakness usually appearing in adolescence. In milder cases signs may be apparent not before late adulthood. A scapuloperoneal subtype sparing the facial muscles has been described. We present two cases with genetically confirmed FSHD with a distinct phenotype solely affecting the paraspinal muscles. Case reports: Patient 1 was a 65-year-old man with a more than 15 year history of a slowly progressive bent spine syndrome. Prior to admission the patient had multiple orthopedi…