congenital merosin-deficient muscular dystrophy 1A

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Disease Overview

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


Synonyms

  • CMD1A
  • LAMA2 congenital muscular dystrophy
  • LAMA2-related muscular dystrophy
  • MDC1A
  • congenital merosin-deficient muscular dystrophy type 1A
  • congenital muscular dystrophy caused by mutation in LAMA2
  • congenital muscular dystrophy due to laminin alpha2 deficiency
  • congenital muscular dystrophy type 1A
  • laminin alpha-2 deficiency
  • merosin-deficient congenital muscular dystrophy
  • merosin-deficient congenital muscular dystrophy type 1A
  • merosin-negative congenital muscular dystrophy
  • muscular dystrophy, congenital merosin-deficient
  • muscular dystrophy, congenital merosin-deficient, 1A
  • muscular dystrophy, congenital merosin-deficient, type 1A
  • muscular dystrophy, congenital, due to partial LAMA2 deficiency
  • muscular dystrophy, congenital, merosin deficient or partially deficient
  • muscular dystrophy, congenital, merosin-deficient

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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MedlinePlus

MedlinePlus has information about this condition that may include a description, frequency, causes, inheritance, and links to more information. The information is written for the public, including patients, caregivers and families. MedlinePlus is a service of the National Library of Medicine (NLM), which is part of the National Institutes of Health (NIH).

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