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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital muscular dystrophy type 1A


Other Names for this Disease
  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
More Names
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Treatment


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How might congenital muscular dystrophy type 1A be treated?

There is currently no cure for congenital muscular dystrophy type 1A (MDC1A) and treatment generally focuses on managing the individual signs and symptoms of the condition. A multidisciplinary approach is often needed and may improve the quality and longevity of life. This may include a joint effort by orthopedic and respiratory specialists; physiotherapists; occupational therapists; and speech-language therapists. The main objective is helping each affected individual reach their full potential. Seizures or other neurological complications may require specific treatment. The prognosis of this condition is poor, as many affected children do not reach adolescence.[1]
Last updated: 9/26/2011

References
  1. M. Fardeau. Congenital muscular dystrophy type 1A. Orphanet. April 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=258. Accessed 9/26/2011.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Congenital muscular dystrophy type 1A. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.