Charcot-Marie-Tooth disease type 2B

Disease Overview

Charcot-Marie-Tooth disease type 2B (CMT2B) is an inherited peripheral neuropathy with onset in the second or third decade of life. Common signs and symptoms include severe loss of sensation in the feet, lower legs, hands, and forearms; reduced tendon reflexes in the ankles; weakness in the lower limbs; and the loss of muscle tissue (muscle atrophy). This type of CMT is also associated with the formation of ulcers in the hands and feet. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion.[6171][13202][13203] Treatment is aimed at addressing the symptoms in each patient and often involves a team of specialists.[6171]

Synonyms

• CMT 2B
• Charcot-Marie-Tooth disease, axonal, Type 2B
• Charcot-Marie-Tooth disease, neuronal, Type 2B
• Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)
• Peripheral sensory neuropathy, autosomal dominant (PSN)
• Charcot Marie Tooth disease type 2B