title: Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.
abstract: We report four patients, currently aged 15, 17, 19, and 42 years, with X-linked dystrophinopathy who presented with mental retardation (IQ range, 60-68) and psychiatric disturbance in the absence of muscle weakness. All patients had elevated serum creatine kinase and dystrophic changes on muscle biopsy. There were alterations in the size and abundance of dystrophin on immunohistochemistry and immunoblotting in all cases, consistent with a molecular diagnosis of Becker's muscular dystrophy. Two patients had deletions of the dystrophin gene on DNA analysis. These findings suggest that Becker's muscular dystrophy may be associated with a predominantly neuropsychiatric presentation and that dystrophinopathy should be considered in the differential diagnosis of unexplained cognitive or psychiatric disturbance in males. Serum creatine kinase may provide an adequate screening test in this clinical situation.
authors.affiliation: Children's Hospital, Boston, MA, USA.
authors.forename: K N
authors.initials: KN
authors.lastname: North
authors.forename: G
authors.initials: G
authors.lastname: Miller
authors.forename: S T
authors.initials: ST
authors.lastname: Iannaccone
authors.forename: P R
authors.initials: PR
authors.lastname: Clemens
authors.forename: D A
authors.initials: DA
authors.lastname: Chad
authors.forename: I
authors.initials: I
authors.lastname: Bella
authors.forename: T W
authors.initials: TW
authors.lastname: Smith
authors.forename: A H
authors.initials: AH
authors.lastname: Beggs
authors.forename: L A
authors.initials: LA
authors.lastname: Specht
mesh_terms: D000293:Adolescent; D000328:Adult; D003072:Cognition Disorders / Q000209:etiology*; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000032:analysis / Q000235:genetics; D004562:Electrocardiography; D006801:Humans; D007150:Immunohistochemistry; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000503:physiopathology / Q000523:psychology; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D003402:Creatine Kinase