Charcot-Marie-Tooth disease type 1E

Disease Overview

Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner.[10688][10691] Treatment is based on the signs and symptoms present in each person.[10688][10689]

Synonyms

• CMT 1E
• Charcot-Marie-Tooth disease, demyelinating, Type 1E
• Charcot-Marie-Tooth disease and deafness
• Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
• Charcot Marie Tooth disease type 1E