Congenital fiber type disproportion
Other Names for this Disease
- Congenital fiber-type disproportion myopathy
- Myopathy, congenital with fiber-type disproportion
- Fiber-type disproportion myopathy, congenital
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 It is a genetic disease caused by mutations in the ACTA1, SEPN1, RYR1 or TPM3 genes. 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.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.
Last updated: 9/5/2012
- Congenital fiber-type disproportion. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion. Accessed 9/5/2012.
- 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.
- DeChene ET, Kang PB, Beggs AH. Congenital Fiber-Type Disproportion. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1259/. Accessed 9/5/2012.
- The National Institute of Neurological Disorders and Stroke (NINDS) provides more information on congenital myopathies in general that you may find helpful. NINDS collects and disseminates research information related to neurological disorders.
- Genetics Home Reference (GHR) contains information on Congenital fiber type disproportion. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.