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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" (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.
4472 videos foundNext > 

https://youtube.com/devicesupport

Ally Bruener Muscular Dystrophy Doc

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

promisetokate.org - Kate's struggles and progress with Myotonic Muscular Dystrophy

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

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Sarah talks about having Ullrich congenital muscular dystrophy (collagen VI myopathy) from England.

4472 videos foundNext > 

191 news items

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.

Nottingham Post

Nottingham Post
Fri, 03 Apr 2015 08:29:21 -0700

The 28-year-old economics graduate has congenital muscular dystrophy and is wheelchair-bound for 16 hours a day, but is concerned that his condition will continue to worsen without physiotherapy. Mr Shah, who has never been able to walk, says his ...

WFTV Orlando

WFTV Orlando
Sat, 18 Apr 2015 09:40:30 -0700

A Port Orange 17-year-old boy suffering from congenital muscular dystrophy came home to find the back porch of his parents' home converted into his own personal movie theater. Brandon Berman became the 5,000th patient who was granted a wish from the ...
 
The Advocate
Sat, 11 Apr 2015 22:15:00 -0700

Advocate Photo by BRAD KEMP Honorary member of the Cecilia baseball team Shae Stelly who is wheelchair bound with Congenital Muscular Dystrophy talks to player Micah Huval before baseball practice at Cecilia High School Monday April 6, 2015 in ...

Fremont News Messenger

Fremont News Messenger
Tue, 07 Apr 2015 15:52:30 -0700

Contact Drusback about those raffle tickets also. The cost is $5 per raffle ticket. The foundation benefits, Parker Ink, a sophomore at St. Joseph Central Catholic High School. Parker was diagnosed at the age of 6 months with Congenital Muscular Dystrophy.

Essex Chronicle

Essex Chronicle
Sat, 11 Apr 2015 22:06:07 -0700

Would-be festivalgoers would be excused for not being familiar with Stanley's Heroes but the charity was started to help the family of Clacton two-year old Stanley Newman, who was born with untreatable congenital muscular dystrophy (CMD). The charity ...

The Daily Pennsylvanian

The Daily Pennsylvanian
Sun, 29 Mar 2015 23:10:42 -0700

Before even before starting classes his freshman year, College sophomore Luke Hoban, who is diagnosed with Congenital Muscular Dystrophy, was set up with accommodations for getting around in a wheelchair and managing his academic needs for the ...
 
Naples Daily News
Tue, 31 Mar 2015 11:45:00 -0700

These children suffer from such conditions and diseases as cerebral palsy, paralysis, congenital muscular dystrophy, autism, spina bifida and hydrocephalus, to name just a few. RKCF has provided items such as walkers, hospital beds, bath chairs, helmet ...
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