Congenital muscular dystrophy

Congenital muscular dystrophy (CMD) is muscular dystrophy that is present at birth. CMD includes a number of autosomal recessive diseases of muscle weakness and possible joint deformities, present at birth and slowly progressing. Life expectancies for affected individuals vary, although some forms of CMD do not affect life span at all.

Management
Treatment is supportive.

Physical and occupational therapy, surgery, wheelchairs and other assistive technology may be helpful.

Currently there is no cure.

Classification
All such known dystrophies are genetically recessive and result from mutations in a variety of different genes, including those encoding the laminin-α2 chain, fukutin-related protein, LARGE and fukutin, amongst others.

A classification for CMDs had been proposed in 2004 by Muntoni and Voit, based on genetic mutation.


 * Genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibres.
 * Genes encoding for putative or demonstrated glycosyltransferases, that in turn affect the glycosylation of dystroglycan, an external membrane protein of the basal membrane.
 * Other

Related organizations
Cure CMD, a Congenital Muscular Dystrophy specific non-profit organization, incorporated in May 2008, and received tax exempt 501 (c)(3) status from the IRS in August 2008. Cure CMD’s mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. You can find more information at www.curecmd.org.