The Journal of Bone and Joint Surgery (American). 2007;89:155-162.
doi:10.2106/JBJS.F.00506
© 2007 The Journal of Bone and Joint Surgery, Inc.
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Letters to the Editor: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Letters to the Editor are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrowReprints and Permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Karol, L. A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Karol, L. A.
Related Collections
Right arrow Spine
Right arrow Pediatrics
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Technorati  
What's this?

Scoliosis in Patients with Duchenne Muscular Dystrophy

Lori A. Karol, MD

Corresponding author:
Lori A. Karol, MD
Texas Scottish Rite Hospital, 2222 Welborn Street, Dallas, TX 75219.
E-mail address: lori.karol@tsrh.org

The first 150 words of the full text of this article appear below.


   Introduction
 
Despite recent research developments, Duchenne muscular dystrophy remains a fatal neuromuscular disease, affecting two to three boys in 10,000. It is an inherited X-linked recessive condition caused by a frame-shift mutation in the dystrophin gene at the Xp21.2 locus of the X chromosome1. Dystrophin is a large cell-membrane protein involved in calcium transport in the muscle cell. Boys with Duchenne muscular dystrophy have an absolute absence of dystrophin, leading to deterioration of the muscle cells and replacement with fibrofatty tissue2. This is in contrast to Becker muscular dystrophy, in which less disruptive mutations that do not result in a frame shift lead to production of variable amounts of a smaller, genetically abnormal dystrophin protein3,4.

Duchenne muscular dystrophy is highly suspected in boys who have a markedly elevated serum creatine phosphokinase level; in two-thirds of such patients, the diagnosis can be confirmed by genetic testing. Approximately two-thirds of . . . [Full Text of this Article]


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Technorati Technorati    What's this?