Scapuloperoneal myopathy

Two members of a family are described with muscle weakness and wasting affecting distal muscles of the lower limbs and muscles of the shoulder girdles. An autosomal dominant mode of inheritance is suggested with involvement of a 39-year-old female and her 15-year-old daughter. The disease in the mother has taken a relatively benign course with slow progression while the daughter has a short history of mild weakness. In both, the symptoms in the legs developed first, with foot-drop and a gait disturbance, and shoulder girdle weakness developed at a later stage. The facial muscles were mildly affected in the mother only. Results of electromyography and muscle biopsy in both these cases support a diagnosis of muscular dystrophy. The scapuloperoneal pattern of muscle involvement occurs in a number of pathological and genetic entities. The differential diagnosis includes scapuloperoneal syndrome with distal sensory loss in the limbs (Davidenkow's syndrome). The nosology of this disorder is discussed in relation to the cases presented.