Familial Proximal Spinal Muscular Atrophy

Abstract

SINCE THE REPORTS of Wohlfart et al¹and Kugelberg and Welander,²there have been a number of case reports^3-10describing patients with slowly progressive proximal limb weakness of neurogenic Origin. The original descriptions include these features: onset of weakness between the ages of 2 and 17 years, slow progression of weakness with atrophy, fasciculations, hyporeflexia, an autosomal recessive inheritance, electromyographic findings, and histological changes on biopsy consistent with a neuropathic lesion. This report is about a single Negro family of 64 members. Nineteen have been affected with a slowly progressive neurogenic weakness. <h3>Report of Cases</h3> CASE1.—III-5 is a 37-year-old man presently employed as a taxicab driver and serving as a minister. Weak since childhood, he was able to work as a construction laborer in early adolescence and lift weights of 100 lb. He served two years in the army medical and quartermaster corps and on