HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Figures Only Full Text Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by North, K. N. Articles by Specht, L. A. Search for Related Content PubMed PubMed Citation Articles by North, K. N. Articles by Specht, L. A.

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy

From Children's Hospital (Drs. North, Beggs, and Specht), Boston, and University of Massachusetts Medical Center (Drs. Chad, Bella, and Smith), Worcester, MA; Texas Children's Hospital (Dr. Miller) and Baylor College of Medicine (Dr. Clemens), Houston, and Texas Scottish Rite Hospital for Children (Dr. Iannaccone), Dallas, TX.
Received April 10, 1995. Accepted in final form July 3, 1995.
Address correspondence and reprint requests to Dr. Geoffrey Miller, Clinical Care Center #955, Pediatric Neurology, Texas Children's Hospital, 6621 Fannin MC 3-3311, Houston, TX 77030-2399.

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.

NEUROLOGY 1996;46: 461-465

This article has been cited by other articles:

				H. K. Young, B. A. Barton, S. Waisbren, L. Portales Dale, M. M. Ryan, R. I. Webster, and K. N. North Cognitive and Psychological Profile of Males With Becker Muscular Dystrophy J Child Neurol, February 1, 2008; 23(2): 155 - 162. [Abstract] [PDF]

				K. L. Chaichana, A. L.H. Buffington, M. Brandes, D. Edwin, and H. B. Lee Treatment of Psychiatric Comorbidities in a Patient With Becker Muscular Dystrophy Psychosomatics, April 1, 2007; 48(2): 167 - 169. [Full Text] [PDF]

				D.-H. Chen, Y. Takeshima, Y. Ishikawa, Y. Ishikawa, R. Minami, and M. Matsuo A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation Neurology, February 1, 1999; 52(3): 638 - 638. [Abstract] [Full Text]

				D. J. Blake, R. Nawrotzki, N. Y. Loh, D. C. Gorecki, and K. E. Davies beta -dystrobrevin, a member of the dystrophin-related protein family PNAS, January 6, 1998; 95(1): 241 - 246. [Abstract] [Full Text] [PDF]

				A. H. Beggs Dystrophinopathy, The Expanding Phenotype: Dystrophin Abnormalities in X-Linked Dilated Cardiomyopathy Circulation, May 20, 1997; 95(10): 2344 - 2347. [Full Text]