Charcot-Marie-Tooth disease type 2E

Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of a peripheral nerve disorder known as axonal Charcot-Marie-Tooth disease. It is described as a sensorimotor neuropathy that affects the nerves controlling movement and sensation in the body. People with this condition may notice problems with walking and leg weakness that can eventually affect the arms. Over time, changes in the feet, such as a high arch (pes cavus), are common. The condition typically starts in early life and can be noticed up to the sixth decade of life. Other features that may appear include reduced or absent tendon reflexes, hearing loss, and a postural tremor. This summary uses information from trusted sources to explain the general features of CMT2E in simple terms for patients and their families.

Common symptoms of CMT2E include difficulty with walking due to a gait anomaly and weakness in the legs. Over time, this weakness can spread to the arms. People with this condition often show reduced or absent tendon reflexes. Additionally, a high arch in the feet (pes cavus) is seen in long-standing cases. Some individuals may also experience hearing loss and a tremor that affects their posture.

CMT2E is caused by changes in the NEFL gene and follows an autosomal dominant pattern of inheritance. This means that a change in just one copy of the gene can lead to the condition. The mutation affects the function of the nerve fibers, which results in the symptoms seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.