Identification of a desmin gene mutation in scapuloperoneal syndrome

Abstract

Background: In 1965, one of the authors reported a kindred with 12 affected members in 5 generations following autosomal dominant inheritance. Age at onset was between 30 and 50 years and followed a slowly progressive course. Histological exmination at autopsy in 1 patient suggested a neurogenic origin, similar to Kugelberg-Welander muscular atrophy. Scapuloperoneal syndrome is a descriptive term comprising various myopathies and muscular atrophies. We examined two affected descendants of the original kindred diagnosed as scapuloperoneal syndrome. The 60-years-old index patient showed pronounced atrophy and weakness of the lower limb and shoulder girdle muscles as well as a slight involvement of the facial muscles and dysphagia, whole body MRI scan showed marked atrophy and fatty degeneration of proximal and distal muscles, only biceps brachii was relatively spared. CK levels were slightly elevated. There was cardiac involvement with mild arrhythmia. Electromyography showed myogenic findings in various muscles as well as subtle neurogenic changes in the distal lower extremities.