Anterior-horn cell degeneration and gross calf hypertrophy with adolescent onset. A new spinal muscular atrophy syndrome.
A new variant of spinal muscular atrophy (S.M.A.), characterised by adolescent onset, gross hypertrophy of calves, and a slowly progressive clinical course, was found in 5 patients, 3 of them in a series of 102 cases being studied in North-East England. Biopsy and electrophysiological studies indicated the presence of chronic progressive degeneration of anterior-horn cells.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000870:Anterior Horn Cells / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D006984:Hypertrophy; D007866:Leg / Q000294:innervation*; D008297:Male; D009046:Motor Neurons / Q000473:pathology*; D009132:Muscles / Q000294:innervation / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics / Q000473:pathology*; D009410:Nerve Degeneration; D013118:Spinal Cord Diseases / Q000150:complications* / Q000473:pathology; D013577:Syndrome