X-linked Charcot-Marie-Tooth disease type 5 (CMTX5)


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]

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