Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4D is a rare inherited disorder that primarily affects the nerves responsible for movement and sensation. It is typically characterized by early childhood onset and is marked by severe, progressive damage to the nerves. People with this condition often experience muscle weakness and atrophy in the hands and feet. In addition to the muscle issues, individuals may exhibit sensorineural hearing loss that can progress to deafness later in adult life, usually around the third decade. Other reported features include very slow nerve conduction speeds and skeletal deformities, especially affecting the feet, with occasional tongue muscle wasting. This overview is based on available evidence and official descriptions of the disease.

Common symptoms of this condition include progressive muscle weakness and atrophy, particularly in the arms and legs, due to nerve damage. People may also experience sensorineural hearing impairment, which can progress to deafness, and have very slow nerve conduction speeds. Additionally, skeletal deformities, especially in the feet, and sometimes tongue atrophy, have been reported.

This condition is caused by genetic mutations and is linked to changes in the NDRG1 gene. It is inherited in an autosomal recessive pattern, meaning that the condition appears when a person inherits two copies of the mutated gene, one from each parent.

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.