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Congenital muscular dystrophy
Classification and external resources
Specialty neurology
ICD-10 G71.2
ICD-9-CM 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.

249 news items

 
PharmiWeb.com (press release)
Sun, 19 Jul 2015 22:15:00 -0700

Liestal, Switzerland, July 20, 2015 - Santhera Pharmaceuticals (SIX: SANN) announces that the first patient in the CALLISTO Phase I study assessing the pharmacokinetics, safety and tolerability of oral omigapil in patients with Congenital Muscular ...
 
Reuters
Sun, 19 Jul 2015 22:15:00 -0700

July 20 Santhera Pharmaceuticals Holding AG : * Announces first patient dosing with Omigapil in congenital muscular dystrophy (CMD) and full patient recruitment of CALLISTO study Source text for Eikon: Further company coverage: (Gdynia Newsroom) ...
 
AAP News
Mon, 27 Jul 2015 06:37:19 -0700

A new guideline on congenital muscular dystrophy endorsed by the Academy ( Pediatrics 2015;136:e548-e548 FREE Full Text) is relevant to both general and subspecialty pediatrics. Though rare, children with congenital muscular dystrophy will be found in ...

Muscular Dystrophy News

Muscular Dystrophy News
Tue, 21 Jul 2015 08:33:45 -0700

... for orphan mitochondrial and neuromuscular diseases, announced that it has dosed the first patient in its CALLISTO Phase I trial that aims to evaluate the safety and tolerability profile of orally-stable omigapil for Congenital Muscular Dystrophy ...

Nottingham Post

Nottingham Post
Mon, 27 Jul 2015 03:52:30 -0700

The courageous 24-year-old died at Queen's Medical Centre, surrounded by his family, on July 16 after a valiant battle with congenital muscular dystrophy. Despite his condition, which left him wheelchair-bound from the age of seven, he lived a full ...

Muscular Dystrophy News

Muscular Dystrophy News
Fri, 05 Jun 2015 08:27:44 -0700

Merozyne Therapeutics AB recently initiated a project with the goal of developing a pharmaceutical treatment to address laminin alpha2 chain-deficient congenital muscular dystrophy (MDC1A) through supporting the research that Madeleine Durbeej-Hjalt ...

Fremont News Messenger

Fremont News Messenger
Fri, 24 Jul 2015 16:26:15 -0700

“I'm ecstatic every year, no matter who it is,” said Ink, who at 6 months of age was diagnosed with congenital muscular dystrophy. “I love it. This is just great.” Former speakers at the Parker's Purpose Dinner Auction include former Heisman winners ...
 
Clacton and Frinton Gazette
Sun, 26 Jul 2015 04:06:02 -0700

The three-year-old has a rare form of muscle-wasting condition congenital muscular dystrophy. Money raised will help make the family home more accessible for Stanley. Society spokesman Wendy Orton said: “This family is unbelievable and Stanley is such ...
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