Charcot-Marie-Tooth disease type 2B

Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a condition that affects the peripheral sensorimotor nerves. This condition is inherited in an autosomal dominant pattern and typically begins in the 2nd or 3rd decade of life. People with this condition often experience ulcerations and infections of the feet. Additionally, they may have changes in the shape of their feet such as high arches or flat feet, and may develop hammer toes during childhood. This summary is based on the recognized characteristics as described in the definition.

The symptoms of CMT2B include ulcerations and infections on the feet, along with symmetric and distal weakness that mainly affects the legs. People with this condition also show a severe loss of sensation in the distal parts of the body and reduced tendon reflexes at the ankles. Foot deformities like high arches (pes cavus), flat feet (planus), or hammer toes are also common.

CMT2B is caused by mutations in the RAB7A gene and is inherited in an autosomal dominant manner. This means that a change in just one copy of the gene is enough to cause the condition. The genetic mutation leads to problems with the peripheral nerves that control movement and sensation.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.