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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". 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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176 news items

 
NBA.com (blog)
Tue, 06 Jan 2015 13:04:38 -0800

Ten-year-old Ashley came onto the Target Center court on Monday night in a rather untraditional way—by rolling onto it. Ashley has dealt with congenital muscular dystrophy her entire life, and a wheelchair is all she has known for mobility. Despite ...
 
MarketWatch
Wed, 16 Jul 2014 23:49:43 -0700

(Thomson Reuters ONE via COMTEX) -- Santhera Pharmaceuticals Holding AG / Santhera Repositions Omigapil in Congenital Muscular Dystrophy and Initiates Clinical Development Program with Public-Private Partners . Processed and transmitted by ...
 
The Pharma Letter
Thu, 17 Jul 2014 05:03:03 -0700

Switzerland-based Santhera Pharmaceuticals (SIX: SAN) has started a clinical program with omigapil, a drug candidate it has in-licensed from Novartis (NOVN: VX) and repositioned for therapeutic use in congenital muscular dystrophy. Omigapil has ...

Washington Free Beacon

Washington Free Beacon
Wed, 07 Jan 2015 08:18:45 -0800

They include Brandon Berman who has autism and suffers from congenital muscular dystrophy and spastic paraplegia. Because of his disabilities, Berman was unable to attend school. By law, the public school system is required to provide him with an ...
 
Wetpaint
Mon, 14 Apr 2014 08:00:08 -0700

They were under the assumption that Ali had Ullrich congenital muscular dystrophy — a severe form that would likely cause her to lose muscle strength and respiratory function. However, after further testing Leah and Corey learned that Ali actually has ...
 
Wetpaint
Thu, 23 Jan 2014 05:58:02 -0800

According to the U.S. National Library of Medicine, Ullrich congenital muscular dystrophy is usually severe, and Ali will eventually have to use a wheelchair once her muscles can no longer support her weight. It's also possible that her respiratory ...
 
FierceBiotech
Fri, 14 Feb 2014 01:09:59 -0800

The biotech ($ALXN) has struck a deal with little Prothelia and the University of Nevada, Reno, where it will step in and conduct development research on a protein replacement therapy for merosin-deficient congenital muscular dystrophy, or MDC1A ...
 
Hollywood Life
Tue, 04 Feb 2014 06:07:02 -0800

In the clip provided by E! Online, we hear from the doctor that Ali's diagnosis is specifically Ullrich congenital muscular dystrophy, which mainly affects the skeletal muscles — those used for movement. Therefore, while Ali is able to walk now, it ...
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