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Genetic and Rare Diseases Information Center (GARD)

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X-linked Charcot-Marie-Tooth disease type 5


Other Names for this Disease
  • Charcot-Marie-Tooth Neuropathy X Type 5
  • CMTX5
  • Familial opticoacoustic nerve degeneration and polyneuropathy
  • Optic atrophy, polyneuropathy, and deafness
  • Optic atrophy, sensorineural hearing loss and polyneuropathy
More Names
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Overview


X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. Symptoms in the upper extremities are generally less severe and develop later. Intellect and life span are normal. CMTX5 is caused by a mutation in the PRPS1 gene. The condition is inherited in an X-linked recessive manner.[1] In rare cases, female carriers may exhibit mild symptoms.[2] Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed.[1]
Last updated: 11/26/2012

References

  1. Kim JW, Kim HJ. Charcot-Marie-Tooth Neuropathy X Type 5. GeneReviews. January 18, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1876/. Accessed 11/26/2012.
  2. Kimberling WJ. Rosenberg Chutorian Syndrome. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/978/viewAbstract. Accessed 11/26/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on X-linked Charcot-Marie-Tooth disease type 5. This website is maintained by the National Library of Medicine.
  • 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

  • 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 X-linked Charcot-Marie-Tooth disease type 5. Click on the link to view a sample search on this topic.