X-linked Charcot-Marie-Tooth disease type 5
Other Names for this Disease
- Charcot-Marie-Tooth Neuropathy X Type 5
- Rosenberg-Chutorian syndrome
- Optic atrophy, polyneuropathy, and deafness
- Optic atrophy, sensorineural hearing loss and polyneuropathy
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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. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed.X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by
Last updated: 11/26/2012
- 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.
- 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.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 X-linked Charcot-Marie-Tooth disease type 5. Click on the link to view a sample search on this topic.