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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.
5578 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.

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

This video shows the strength and determination of our little girl Kate. It is her progress for her first 3 years of life after being born with Congenital My...

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.

5578 videos foundNext > 

184 news items

Maldon and Burnham Standard

Maldon and Burnham Standard
Fri, 21 Nov 2014 04:44:28 -0800

The brave tot has a rare disease called congenital muscular dystrophy, which affects his muscles and is gradually weakening him. Family and friends have been raising cash so he can have a special wheelchair. Fundraiser Rosalyn Bowers also set up a ...
 
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 ...
 
Reuters
Wed, 16 Jul 2014 22:26:15 -0700

July 17 (Reuters) - Santhera Pharmaceuticals Holding AG : * Says repositions omigapil in congenital muscular dystrophy * Says initiates clinical development program with public-private partners * Says patient enrolment is expected to start in late 2014 ...
 
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 ...

The Hindu

The Hindu
Sun, 09 Nov 2014 12:37:30 -0800

As soon as Naidhroven A. sees a visitor approaching his house, from his first floor balcony, he quickly descends in a customised lift. The 24-year-old and his father, R. Aravamudan (60), who were diagnosed with congenital muscular dystrophy, are ...
 
Clacton and Frinton Gazette
Thu, 13 Nov 2014 09:06:09 -0800

DEVASTATED fundraisers have slammed health and safety bosses after plans to pull a fire engine through the streets of Clacton to support a tot with a rare disease were axed at the 11th hour. Plucky two-year-old Stanley Newman, of Skelmersdale Road, ...
 
Wetpaint
Mon, 14 Apr 2014 08:00:08 -0700

They were under the assumption that Ali had Ullrich congenital muscular dystrophy — a severe form that would likely cause her to lose muscle strength and respiratory function. However, after further testing Leah and Corey learned that Ali actually has ...
 
Clacton and Frinton Gazette
Sat, 01 Nov 2014 05:07:22 -0700

BIG-HEARTED actors are hosting a show to raise money for a youngster with a rare muscle disease. The Haven Lights Theatre Group present a variety show at the West Cliff Theatre, Clacton, on Sunday at 2.30pm to support two-year-old Stanley Newman, ...
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