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Genetic and Rare Diseases Information Center (GARD)

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Congenital fiber type disproportion


Other Names for this Disease

  • CFTDM
  • Congenital fiber-type disproportion myopathy
  • Fiber-type disproportion myopathy, congenital
  • Myopathy, congenital with fiber-type disproportion
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Overview

Congenital fiber type disproportion is a type of congenital myopathy. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Early signs and symptoms of congenital fiber type disproportion include floppiness, limb and facial weakness, and breathing problems.[1][2] It is a genetic disease caused by mutations in the ACTA1, SEPN1RYR1 or TPM3 genes.[1] Depending on the gene and mutation involved, congenital fiber type disproportion can be passed through families in an autosomal recessive, autosomal dominant, or X-linked manner.[1][3]
Last updated: 9/5/2012

References

  1. Congenital fiber-type disproportion. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion. Accessed 9/5/2012.
  2. NINDS Congenital Myopathy Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2011; http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm. Accessed 9/5/2012.
  3. DeChene ET, Kang PB, Beggs AH. Congenital Fiber-Type Disproportion. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1259/. Accessed 9/5/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 fiber type disproportion. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CFTDM
  • Congenital fiber-type disproportion myopathy
  • Fiber-type disproportion myopathy, congenital
  • Myopathy, congenital with fiber-type disproportion
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.