welcome to DuchenneXchange
- a positively charged Duchenne muscular dystrophy community.- join today!
- log in
Psychosocial support needs of families of boys with Duchenne muscular dystrophy
authors: Jean K. Mah, Doug Biggar
summary/abstract:Duchenne muscular dystrophy (DMD, OMIM #310200) is the most common form of muscular dystrophy in childhood, with an incidence of approximately 1 per 3,500 live-born males. It is caused by mutations of the DMD gene located on Xp21 which codes for dystrophin, a 427-kDa protein that is expressed at the sarcolemma of skeletal muscle. The dystrophin gene contains 79 exons, which includes an actin-binding domain at the N-terminus, 24 spectrin-like repeat units, a cysteine-rich dystroglycan binding site, and a C-terminal domain. The large size of the dystrophin gene results in a complex mutational spectrum (>4,700 different mutations) as well as a high spontaneous mutation rate. Large deletions account for approximately 65% of DMD mutations while duplications occur in up to 10% of males with DMD. The remaining 25% include small deletions, insertions, point mutations, or splicing mutations. About two-thirds of DMD cases are inherited from mothers carrying the mutations, with the remaining one-third occurring as spontaneous mutations. According to Monaco et al, DMD-causing mutations are typically associated with an out-offrame mutation leading to a loss of functional gene product, whereas in-frame mutations that allow synthesis of an internally truncated but functional protein result in a milder Becker muscular dystrophy (BMD) phenotype.
organization: University of Calgary, Canada; University of Toronto, Canadaread more
rareRelated
-
CureDuchenne Hosts “Futures” Conference in Boston, November 3-4Caregivers of Duchenne muscular dystroph...
-
DuchenneXchange.org Online Platform for Duchenne Community Reaches Milestones with Partner Organizations and UsersThe DuchenneXchange.org has a reason to ...
-
The World of Duchenne: How to Support a Duchenne ParentThe World of Duchenne I live in two wor...
-
Sarepta Therapeutics Announces Second Year of Route 79, The Duchenne Scholarship ProgramSarepta Therapeutics, Inc., the leader i...
-
harrisonsfundHarrison's Fund: Our goal is to cure Duc...
-
@ClairelohanlonDMD mum, Regional Development Manager (N...
-
Duchenne UKDuchenne UK is a lean, ambitious and hig...