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Congenital muscular dystrophy
Classification and external resources
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.

327 news items

Clacton and Frinton Gazette

Clacton and Frinton Gazette
Thu, 02 Jul 2015 07:11:59 -0700

THE shocked parents of a youngster with a rare disease have received heartbreaking news after years of trying to get a diagnosis – but refuse to give up hope. Stanley Newman, three, of Skelmersdale Road, Clacton, has a severe and incredibly rare form ...

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 ...

Evesham Observer

Evesham Observer
Fri, 03 Jul 2015 06:18:45 -0700

Staff at the Worcester-based charity had helped to care for Adam, who was born with congenital muscular dystrophy, before he passed away about four years ago, aged 26. And Maurice said he was determined to generate funds for the hospice as he had ...
 
Nature.com
Fri, 19 Jun 2015 05:01:13 -0700

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results. Oxid Med Cell Longev 2011; 2011: 139194. | Article | PubMed |; Millay DP, Sargent MA, Osinska H, Baines CP, Barton ER, Vuagniaux G et al. Genetic and pharmacologic inhibition ...

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.

Muscular Dystrophy News

Muscular Dystrophy News
Mon, 15 Jun 2015 09:12:04 -0700

This week researchers from the Institute for Neurodegenerative Disease, Massachusetts General Hospital (MGH), Harvard Medical School, released results from a study showing that a key protein associated with the development of Alzheimer's disease, ...

Worcester News

Worcester News
Mon, 15 Jun 2015 04:07:18 -0700

Adam was born with congenital muscular dystrophy and doctors originally told the couple he would not live to five years old. One of the first children through the doors of Acorns Children's Hospice, Bath Road, Worcester, when it opened a decade ago ...
 
Maldon and Burnham Standard
Sun, 14 Jun 2015 05:56:15 -0700

Stanley's type of congenital muscular dystrophy is so rare it only affects one in a million people. The cash will be used to help him. Rob said: “There's not much research into his condition, so it is a chance for us to build a little pot of money to ...
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