Facioscapulohumeral dystrophy presenting as axial myopathy

Introduction: Axial myopathy is a rare neuromuscular disorder characterized by selective involvement of the spinal muscles with a bent spine and/or drooping head and/or camptocormia as leading clinical features. The cause is still unclear and propably heterogenous. Facioscapulohumeral dystrophy (FSHD) is characterized by a pattern of muscle weakness involving the face, scapula, upper arm, lower leg, and hip girdle. Methods: We demonstrate three patients with predominant axial weakness. Diagnosis of FSHD was established in all three cases by genetic analysis at 4q35. Results: Age at onset was 68 years of one fema…