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 female, 50 years of another female and 75 years of a male patient. Family history was negative in two patients, positive in one patient. In all three cases the clinical picture was summarized as axial myopathy. There was no facial involvement. Slight additional weakness and atrophy of shoulder girdle muscles was seen in two patients. One patient showed additional weakness of the hip girdle and lower leg. Beevor's sign was positive in two patients. CK level was rised 0,5fold to twofold. Electromyogramm showed myopathic pattern in paravertebral muscles and normal pattern in M. vastus in two patients. In one patient muscle biopsy revealed unspecific changes in M. biceps brachii and neurogenic changes in paravertebral muscle. Genetic analysis (EcoRI/BlnI) revealed fragment length of 33 kb, 24 kb and 24 kb.

Discussion: In the case of the clinical picture of an axial weakness FSHD should be considered. The cases also highlight that facial and shoulder girdle weakness can be missing in FSHD. Also the cases emphasize the heterogeneity of axial myopathy phenotype.