This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed.
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