title: Lipid disturbances associated with spiral muscular atrophy. Clinical, electromyographic, histochemical, and lipid studies.
abstract: Twelve patients with juvenile- and adult-onset spinal muscular atrophy have been studied. Eleven of the twelve patients had either type II, type IV, or borderline abnormal phenotypes, suggesting a possible relationship between serum lipid abnormalities and neuronal degeneration in the spinal muscular atrophies. Muscle enzyme histochemical studies provided valuable diagnostic information. Extensor toe signs and talipes cavus were common clinical observations.
mesh_terms: D000251:Adenosine Triphosphatases; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D004576:Electromyography; D005260:Female; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications; D008055:Lipids / Q000097:blood*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology; D009133:Muscular Atrophy / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology; D010641:Phenotype; D013118:Spinal Cord Diseases / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology; D013577:Syndrome; D014280:Triglycerides / Q000097:blood
chemical_list: D008055:Lipids; D008074:Lipoproteins; D014280:Triglycerides; D002784:Cholesterol; D000251:Adenosine Triphosphatases