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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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176 news items

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 ...

Cambridge News

Cambridge News
Mon, 23 Mar 2015 01:49:45 -0700

Debra McLellan, from Huntington, has a six-year-old son, Dan, who was diagnosed with Ullrich congenital muscular dystrophy in 2012. She said it came as a "total bolt from the blue". "We were in a state of shock and didn't tell our family for weeks and ...

Toowoomba Chronicle

Toowoomba Chronicle
Fri, 27 Mar 2015 13:03:45 -0700

Jade suffers from congenital muscular dystrophy. Ms Cherie said the Starlight Express Room helped the whole family. TOP STORIES ONLINE. New CBD Bunnings to go to full council meeting · Toowoomba mum petitions for medical cannabis reform · Arriba!

mirror.co.uk

Birmingham Mail
Sat, 21 Mar 2015 14:03:19 -0700

Abbi, a pupil at Bournville Infant School, suffers from Ullrich Congenital Muscular Dystrophy – a rare muscle-wasting disease which means she can't run or jump or climb the stairs, and must spend time in a wheelchair. The chatty schoolgirl, who loves ...

Southgate News Herald

Southgate News Herald
Fri, 20 Mar 2015 14:00:53 -0700

Andrew, an 11-year-old Flat Rock boy with merosin deficient congenital muscular dystrophy, waits for his 1-year-old white Labrador/golden retriever service dog named Otto. The pup is being trained in Indiana specifically to help care for and protect ...
 
UPENN Almanac
Tue, 03 Mar 2015 05:07:30 -0800

Team Cure CMD (Congenital Muscular Dystrophy): Pam Van Ry, University of Nevada School of Medicine; postdoctoral fellowship to study galectin-1 protein therapy for the treatment for laminin alpha2 related congenital muscular dystrophy. Team FH ...

UGA Today

UGA Today
Mon, 23 Mar 2015 02:45:00 -0700

Research on proteins linked to diseases such as cancer, congenital muscular dystrophy and HIV/AIDS, conducted by Danish Singh, a biochemistry and economics double major who worked as a 2014 CURO Summer Fellow. • An exploration of "The Impact of ...
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