Congenital muscular dystrophy

Congenital muscular dystrophy
Classification and external resources
ICD-10	G71.2
ICD-9	359.0
eMedicine	neuro/549

Congenital muscular dystrophy (CMD) is the term used to describe muscular dystrophy that is present at birth. CMD describes a number of autosomal recessive^[1] 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.^[2]

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.^[3]

• 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

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

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

• Muscular Dystrophy Association (USA)
• Muscular Dystrophy Campaign (UK)

References

1. ^ Reed UC (March 2009). "Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects". Arq Neuropsiquiatr 67 (1): 144–68. PMID 19330236. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000100038&lng=en&nrm=iso&tlng=en. 
2. ^ Collins J, Bönnemann CG (March 2010). "Congenital muscular dystrophies: toward molecular therapeutic interventions". Curr Neurol Neurosci Rep 10 (2): 83–91. doi:10.1007/s11910-010-0092-8. PMID 20425232. 
3. ^ Muntoni F, Voit T (2004). "The congenital muscular dystrophies in 2004: a century of exciting progress". Neuromuscul. Disord. 14 (10): 635–49. doi:10.1016/j.nmd.2004.06.009. PMID 15351421. http://www.enmc.org/uploaded//publicatie/CMD2004.pdf. 

External links

• Cure CMD
• GeneReview/NIH/UW entry on Congenital Muscular Dystrophy Overview
• Muscular Dystrophy Association (Greece)