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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital muscular dystrophy


Other Names for this Disease
  • CMD
  • Congenital MD
  • MDC
Related Diseases
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Overview

Congenital muscular dystrophy (CMD) refers to a group of inherited conditions that affect the muscles and are present at birth or in early infancy. The severity of the condition, the associated signs and symptoms and the disease progression vary significantly by type. Common features include hypotonia; progressive muscle weakness and degeneration (atrophy); joint contractures; and delayed motor milestones (i.e. sitting up, walking, etc). CMD can be caused by a variety of different genes. Most forms are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 6/22/2015

References

  1. Congenital Muscular Dystrophy. NORD. 2013; https://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/.
  2. Susan Sparks, MD, PhD, Susana Quijano-Roy, MD, PhD, Amy Harper, MD, Anne Rutkowski, MD, Erynn Gordon, MS, CGC, Eric P Hoffman, PhD, and Elena Pegoraro, MD, PhD. Congenital Muscular Dystrophy Overview. GeneReviews. August 2012; http://www.ncbi.nlm.nih.gov/books/NBK1291/.
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Basic Information

  • Muscular Dystrophy Association has information and resources about Congenital muscular dystrophy. Please click on the link to access this resource.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital muscular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CMD
  • Congenital MD
  • MDC
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.