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.
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