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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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216 news items

 
Grand Forks Herald
Fri, 12 Dec 2014 21:37:53 -0800

Spurgeon, who has congenital muscular dystrophy, was chosen as the North Dakota recipient of Macy's and Make-A-Wish's National Believe Day. After being connected with Make-A-Wish through her doctor at Altru Health System, Spurgeon wished for a ...

KVRR

KVRR
Fri, 12 Dec 2014 19:00:00 -0800

Peyton was born with congenital muscular dystrophy. With it being hard for her to get around in the cold temps, a warm fuzzy pal will do a lot of good. "Winter time she can't go outside that much so the fact that she'll have something that's playful ...
 
The Pharma Letter
Thu, 17 Jul 2014 05:00:00 -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 ...
 
MarketWatch
Wed, 16 Jul 2014 23:45:00 -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 ...

cornishguardian.co.uk

cornishguardian.co.uk
Wed, 10 Dec 2014 01:11:03 -0800

The children suffer from congenital muscular dystrophy and Heather said she was so taken with the family's daily struggles that she and friend Jamie Amos decided to do something to help. To raise money and awareness, the pair have organised the evening ...

Gazette

Gazette
Sun, 30 Nov 2014 01:00:00 -0800

He has been diagnosed with the muscle-wasting disease congenital muscular dystrophy. Family and friends have been working hard to raise cash for equipment to help him enjoy life as much as possible. Their efforts will now be boosted by proceeds from ...

Clacton and Frinton Gazette

Clacton and Frinton Gazette
Sun, 07 Dec 2014 01:13:19 -0800

Two-year-old Stanley has a muscle-wasting disease called congenital muscular dystrophy. Friends and family have been going all out to raise cash for a special wheelchair for the Clacton youngster, as well as for the help and equipment he will need in ...

Gazette

Gazette
Sun, 07 Dec 2014 04:22:30 -0800

Brave youngster Stanley Newman who has congenital muscular dystrophy and Parkinson's disease sufferer Wendy Orton pressed the button which illuminated the streets. Stars of the West Cliff Theatre's Variety Show and the Princes Theatre's pantomime ...
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