title: Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy.
abstract: We studied a 29-year-old man with slowly progressive proximal leg weakness, calf hypertrophy, and high serum levels of creatine kinase activity. Clinically, it was not possible to identify his as a sporadic instance of Becker muscular dystrophy (BMD) or one of spinal muscular atrophy. The problem arose because electromyography and elevated creatine kinase suggested a myopathy whereas changes in the muscle biopsy resembled a neurogenic disorder. The diagnosis of BMD was made by DNA analysis which detected a deletion at Xp21 and by immunoelectrophoresis and immunohistochemical tests that identified an abnormal form of gene product, dystrophin. These studies were important for genetic counselling, identifying an X-linked disease instead of one that is autosomal recessive.
authors.affiliation: Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032.
authors.forename: T D
authors.initials: TD
authors.lastname: McDonald
authors.forename: R
authors.initials: R
authors.lastname: Medori
authors.forename: D S
authors.initials: DS
authors.lastname: Younger
authors.forename: H W
authors.initials: HW
authors.lastname: Chang
authors.forename: C
authors.initials: C
authors.lastname: Minetti
authors.forename: A
authors.initials: A
authors.lastname: Uncini
authors.forename: E
authors.initials: E
authors.lastname: Bonilla
authors.forename: A P
authors.initials: AP
authors.lastname: Hays
authors.forename: R E
authors.initials: RE
authors.lastname: Lovelace
mesh_terms: D000328:Adult; D015153:Blotting, Western; D004247:DNA / Q000032:analysis / Q000235:genetics; D016189:Dystrophin / Q000032:analysis* / Q000096:biosynthesis / Q000235:genetics; D004576:Electromyography; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007122:Immunoelectrophoresis; D007150:Immunohistochemistry; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology
chemical_list: D016189:Dystrophin; D004247:DNA