title: [A case of Down syndrome complicated with Becker muscular dystrophy].
abstract: A 22-year-old man with Down syndrome had a history of progressive muscular wasting which began at the age of 12 years. Serum CK level was elevated to 545 U/l (normal < 150) and muscle CT scan revealed patchy low density areas in the proximal muscles. A muscle biopsy specimen revealed marked dystrophic changes with patchy immunostaining for dystrophin. Multiplex PCR analysis of the genomic DNA extracted from peripheral blood lymphocytes disclosed a deletion of exons 45-47 of the dystrophin gene, confirming a diagnosis of Becker muscular dystrophy (BMD). This is the first report of Down syndrome complicated with BMD. Careful observation is required in detecting a coexistence of myopathy in mentally retarded patients.
authors.affiliation: Department of Neurology, Toranomon Hospital.
authors.forename: K
authors.initials: K
authors.lastname: Sakai
authors.forename: S
authors.initials: S
authors.lastname: Kojima
authors.forename: T
authors.initials: T
authors.lastname: Matsumura
authors.forename: A
authors.initials: A
authors.lastname: Takagi
authors.forename: K
authors.initials: K
authors.lastname: Arahata
mesh_terms: D000328:Adult; D004314:Down Syndrome / Q000150:complications*; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications* / Q000175:diagnosis