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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.
5702 videos foundNext > 

Ally Bruener Muscular Dystrophy Doc

This is my first mini-documentary. Ally Bruener explains how she juggles life while having a congenital muscle disease.

Overview of Congenital Muscular Dystrophy by Dr. Jim Collins

Stronger than Congenital Muscular Dystrophy

Jake is Stronger than Congenital Muscular Dystrophy.

Jack has congenital muscular dystrophy

Jack has congenital muscular dystrophy (dystroglycanopathy subtype). Here is a video recap put together by his mother, Ann, for his 10th birthday.

Congenital Muscular Dystrophy

Sarah McCain and Cathy Hackett.

Get Connected: Congenital Muscular Dystrophy

Do you or somebody you know have Congenital Muscular Dystrophy? If so, visit our website at www.curecmd.org Learn more about how we can help you, get connect...

Investigating Congenital Muscular Dystrophy From Bench to Bedside)

Dr. Sweta Girgenrath from Boston University shares an update on her research in LAMA2 (Merosin Deficient/MDC1A) Muscular Dystrophy.

Justin Moy Profile

Justin Moy, 14, is from Concord, Mass., and enjoys singing, swimming, playing video games and collecting coins. Affected by congenital muscular dystrophy (CM...

Stem Cell Therapy Treatment for Congenital Muscular Dystrophy by Dr Alok Sharma, Mumbai, India.

Improvement seen in just 5 day after Stem Cell Therapy Treatment for Congenital Muscular Dystrophy by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy ...

Therapeutic Potential of Adult Stem Cells in the Congenital Muscular Dystrophies

Dr. Olga Igoucheva from Thomas Jefferson University shares an update on her research with adult stem cells in Collagen VI and LAMA2 Muscular Dystrophies.

5702 videos foundNext > 

5 news items

The Daily Telegraph

The Daily Telegraph
Mon, 29 Sep 2014 19:30:45 -0700

The campaign to raise money for Fletcher and Daniel starts, October 1 at 11am. ○ They are hoping to raise $30,000 in 30 days. ○ The boys have a rare form of congenital muscular dystrophy. ○ The research will help protect the boys' hearts, and extend ...
 
Newswise (press release)
Wed, 29 Oct 2014 05:56:15 -0700

The runner-up for the Golseth Award is Daniel P. Schwartz, MD, of Washington, D.C., for his abstract entitled, “Electrical Impedance Myography Discriminates Congenital Muscular Dystrophy from Controls.” The Golseth Young Investigator Award, honoring ...

The Daily Telegraph

The Daily Telegraph
Mon, 06 Oct 2014 20:11:15 -0700

Mum tries to raise $30k to give son Fletcher hope of recovery from congenital muscular dystrophy. Fletcher Ball, 2, and five-year-old Daniel O"Brien (in blue) who both suffer from muscular dystrophy. Source: News Corp Australia. “Within 20 hours we had ...
 
Clacton and Frinton Gazette
Tue, 30 Sep 2014 04:03:45 -0700

A BIG-HEARTED amateur dramatic society is planning a show in Clacton to raise funds for a youngster with a rare muscle condition. Haven Lights Theatre Group is putting on a variety show called Wheels for Stanley to help buy a new wheelchair for two ...
 
Maldon and Burnham Standard
Sun, 14 Sep 2014 01:03:45 -0700

But now he has been diagnosed with congenital muscular dystrophy – though tests are still being carried out to find out exactly which type of the disease he has. Dad Robbie said: “We know that it is going to get worse. It's a condition without a ...
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