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|Congenital muscular dystrophy|
|Classification and external resources|
|OMIM||607855 254090 236670 253280 253800 604801 606612 608840 602771 613204|
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.
Treatment is supportive.
Currently there is no cure.
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.
|Name||Abbreviation||Group||OMIM||Gene and locus|
|Laminin-α2–deficient CMD||MDC1A||basal membrane/extracellular matrix||607855||LAMA2 at 6q22-q23|
|Ullrich congenital muscular dystrophy||UCMDs 1, 2 and 3||basal membrane/extracellular matrix||254090||COL6A1 at 2q37, COL6A2 at 21q22.3, COL6A3 at 21q22.3|
|Walker-Warburg syndrome||WWS||glycosylation of dystroglycan||236670||POMT1 at 9q34.1 and POMT2 at 14q24.3|
|Muscle-eye-brain disease||MEB||glycosylation of dystroglycan||253280||POMGNT1 at 1p34-p33|
|Fukuyama CMD||FCMD||glycosylation of dystroglycan||253800||FKTN at 9q31|
|CMD plus secondary laminin deficiency 1||MDC1B||glycosylation of dystroglycan||604801||? at 1q42|
|CMD plus secondary laminin deficiency 2||MDC1C||glycosylation of dystroglycan||606612||FKRP at 19q13.3|
|CMD with mental retardation and pachygyria||MDC1D||glycosylation of dystroglycan||608840||LARGE at 22q12.3-q13.1|
|Rigid spine with muscular dystrophy Type 1||RSMD1||other||602771||SEPN1 at 1p36-p35|
|613204||ITGA7 at 12q13|
Related organizations Edit
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.
See also Edit
- ↑ Reed UC (March 2009). Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects. Arq Neuropsiquiatr 67 (1): 144–68.
- ↑ Collins J, Bönnemann CG (March 2010). Congenital muscular dystrophies: toward molecular therapeutic interventions. Curr Neurol Neurosci Rep 10 (2): 83–91.
- ↑ Muntoni F, Voit T (2004). The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul. Disord. 14 (10): 635–49.
- Cure CMD
- GeneReview/NIH/UW entry on Congenital Muscular Dystrophy Overview
- Muscular Dystrophy Association (Greece)
|The Nine Primary Muscular Dystrophies|
|US government Institutes and Legislation|
Jerry Lewis MDA Telethon (USA)
|Recent or Ongoing Clinical Trials|
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
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