Charcot-Marie-Tooth disease type 2A2

Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is an inherited neurological disorder. It is a subtype of autosomal dominant Charcot-Marie-Tooth disease that usually begins in childhood. People with this condition often experience weakness in the arms and legs, particularly affecting muscles in the lower legs and feet. This weakness is generally accompanied by features such as loss of reflexes, foot deformities, and other motor challenges. In addition to the motor symptoms, there can be reductions in sensory functions including pain and temperature sensation. Some individuals may also show signs such as postural tremors, scoliosis, and joint contractures. Other reported associations include optic atrophy, vocal cord palsy with changes in voice, sensorineural hearing loss, and various spinal cord issues. This disease is linked to mutations in the MFN2 gene.

Common symptoms include early-onset weakness in the limbs, particularly affecting the lower extremities, and reduced or absent reflexes. People with this condition may experience diminished sensation, especially for pain and temperature. Other symptoms can include foot deformities, postural tremor, scoliosis, and contractures. In some cases, there are additional symptoms such as optic atrophy, vocal cord palsy, sensorineural hearing loss, as well as spinal cord abnormalities and hydrocephalus.

This condition is caused by genetic mutations in the MFN2 gene. It follows an autosomal dominant pattern of inheritance, meaning that a change in just one copy of the gene can lead to the condition. This genetic change affects the normal function of nerve cells, leading to the symptoms observed.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.