Clinical study of proximal spinal muscular atrophy. Report on 89 cases.
A report on 89 cases of proximal Spinal Muscular Atrophy with observations on the clinical features, criteria of classification and modes of inheritance. The various forms into which SMA is divided probably represent a single disease that may begin at any age and may vary in severity, due, as a rule, to an autosomal recessive gene.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009133:Muscular Atrophy / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D013118:Spinal Cord Diseases / Q000175:diagnosis* / Q000235:genetics