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Congenital muscular dystrophy
Classification and external resources
ICD-10 G71.2
ICD-9 359.0
OMIM 607855 254090 236670 253280 253800 604801 606612 608840 602771 613204
eMedicine neuro/549
GeneReviews

Congenital muscular dystrophy (CMD) is muscular dystrophy that is present at birth. CMD includes 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[edit]

Treatment is supportive.[2]

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

Currently there is no cure.

Classification[edit]

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. Based on genetic mutation, a classification for CMDs had been proposed in 2004 by Muntoni and Voit.[3]

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

See also[edit]

References[edit]

  1. ^ Reed UC (March 2009). "Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects". Arq Neuropsiquiatr 67 (1): 144–68. doi:10.1590/s0004-282x2009000100038. PMID 19330236. 
  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" (PDF). Neuromuscul. Disord. 14 (10): 635–49. doi:10.1016/j.nmd.2004.06.009. PMID 15351421. 

External links[edit]


Original courtesy of Wikipedia: http://en.wikipedia.org/wiki/Congenital_muscular_dystrophy — Please support Wikipedia.
This page uses Creative Commons Licensed content from Wikipedia. A portion of the proceeds from advertising on Digplanet goes to supporting Wikipedia.
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194 news items

 
The Advocate
Thu, 14 May 2015 21:52:30 -0700

Advocate Photo by BRAD KEMP Honorary member of the Cecilia baseball team Shae Stelly who is wheelchair bound with Congenital Muscular Dystrophy during baseball practice at Cecilia High School Monday April 6, 2015 in Cecilia, La.

Allentown Morning Call

Allentown Morning Call
Fri, 15 May 2015 16:15:00 -0700

Shelby has congenital muscular dystrophy, and was losing the ability to sit up in her bed. This was creating problems in her busy life as a high school freshman. She could no longer do homework in bed, no longer stay up and watch television, no longer ...

Neurology Advisor

Neurology Advisor
Thu, 02 Apr 2015 14:11:01 -0700

The American Academy of Neurology and the American Association of Neuromuscular and Electrodiagnostic Medicine have released new evidence-based guidelines for the evaluation, diagnosis, and management of congenital muscular dystrophy.

Norfolk Eastern Daily Press

Norfolk Eastern Daily Press
Sun, 17 May 2015 09:41:15 -0700

Ms Wheeler said her inspiration came from colleague Rod King and his wife Catherine, whose daughter Eden has a condition called Ullrich Congenital Muscular Dystrophy and receives care and support from EACH. She said: “It has been fantastic, we only ...
 
Millard County Chronicle Progress
Thu, 14 May 2015 13:48:45 -0700

Boardman attributed a portion of his interest in STEM subjects to his congenital muscular dystrophy. Since he was unable to participate in many physical activities that his peers enjoyed, Boardman was able to focus more time on his interests which ...

Norfolk Eastern Daily Press

Norfolk Eastern Daily Press
Tue, 12 May 2015 04:48:45 -0700

Ms Wheeler said her inspiration came from colleague Rod King and his wife Catherine, whose daughter Eden has a condition called Ullrich Congenital Muscular Dystrophy and receives care and support from EACH. She said: “Rod, Catherine and Eden King ...

NCAA.com

NCAA.com
Mon, 04 May 2015 14:14:28 -0700

Thomas, who is from Windsor, has congenital muscular dystrophy and a severe case of scoliosis. "He's been with us the last few seasons," coach Justin Blood said. "Thomas' family put together a video, chronicling the relationship. Until watching that ...

Bromsgrove Advertiser

Bromsgrove Advertiser
Fri, 15 May 2015 09:14:58 -0700

33-year-old Kelly O'Nions, a teacher at St James' Catholic Primary school, is trying to raise the cash for Abbi Bennett, just seven-years-old, who suffers from Ullrich Congenital Muscular Dystrophy - an ultra rare muscle wasting condition. It is hoped ...
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