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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.

7 news items

 
Collie Mail
Sun, 24 Aug 2014 18:30:00 -0700

Mrs Swan will ride for her three year old newphew Charlie, who has congenital muscular dystrophy. Due to significantly weakened muscles, Charlie is unable to carry out tasks which most other children his age do with ease. He has never crawled or walked ...
 
Wicked Local Braintree
Thu, 14 Aug 2014 07:04:12 -0700

Like many teenagers, Karelle Reid, 16, of Braintree loves rock bands. However, she has both mitochondrial disease and congenital muscular dystrophy, a disease that recently killed her mother's cousin. Although she has been able to walk for most of her ...

Bradford Times

Bradford Times
Thu, 31 Jul 2014 08:45:00 -0700

Two and a half year old Millie Arjoon has Ulrich Congenital Muscular Dystrophy, a form of MD so rare that it affects just 1 in one million. Due to a genetic mutation, her body doesn't produce enough of the collagen that gives muscles their elasticity ...

SaintPetersBlog (blog)

SaintPetersBlog (blog)
Thu, 31 Jul 2014 13:22:35 -0700

“I don't mind being exploited in this manner because I believe in it,” said Donna Berman, whose son has congenital muscular dystrophy. The FEA has said that the scholarship program is not its target but “collateral damage” in the suit. “The parents of ...
 
Daily Mail
Thu, 31 Jul 2014 05:37:37 -0700

Jaclyn Ollerenshaw, whose three-year-old daughter Willow has congenital muscular dystrophy, said: "It can be a lonely world once you get a diagnosis and you're constantly on the go. "To come here and meet other parents and know that everyone is trained ...
 
So Cheshire
Sun, 03 Aug 2014 11:33:45 -0700

Jaclyn Ollerenshaw whose three-year-old daughter Willow has congenital muscular dystrophy said the support provided by Francis House has been life-changing for the whole family. Jaclyn told us: “It can be a lonely world once you get a diagnosis and ...
 
Ad-Hoc-News (Pressemitteilung)
Sun, 03 Aug 2014 14:27:47 -0700

... Switzerland, July 17, 2014 - Santhera Pharmaceuticals (SIX: SANN) announced today the initiation of a clinical program with omigapil, a drug candidate in-licensed from Novartis and repositioned for therapeutic use in Congenital Muscular Dystrophy ...
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