NONVACUOLAR MYOPATHY IN A LARGE FAMILY WITH BOTH LATE ADULT ONSET DISTAL MYOPATHY AND SEVERE PROXIMAL MUSCULAR-DYSTROPHY

Late adult onset distal myopathies usually show vacuolar degeneration as a characteristic feature in muscle pathology. In this study vacuolar degeneration was not present in 12 patients with late adult onset distal myopathy. All patients were members of a large kindred, with 26 patients showing this new form of distal leg myopathy. Additionally, a severely disabling proximal muscular dystrophy appeared in eight other members of the large consanguineous kindred. Muscle biopsies were obtained from clinically affected muscles, and from clinically unaffected muscles in patients with distal myopathy. For comparison specimens from various muscles of patients with severe proximal dystrophy were also studied. Histopathological changes correlating to muscular dystrophy were extensive in all muscles studied in patients with proximal dystrophy, and in tibial anterior muscles in patients with distal myopathy. Mild myopathic changes, mainly increased internal nuclei in muscle fibers, were detected in clinically unaffected muscles in the distal myopathy. The spectrum of findings is compatible with the hypothesis of previous clinical and genetic studies, indicating that the severe proximal dystrophy could be a homozygous manifestation of the dominantly inherited gene of the distal tibial muscle dystrophy.