Charcot-Marie-Tooth disease type 1D

Charcot-Marie-Tooth disease type 1D is a form of inherited nerve disorder that is a type of CMT1. It is caused by mutations in the EGR2 gene, located on chromosome 10q21.1. The condition can appear at different ages, ranging from infancy to adulthood, and its severity can vary widely among people with this condition. People with this condition usually show symptoms such as problems with walking, weakening and wasting of muscles in the arms and legs (especially in the distal parts), and foot deformities. In some cases, other features such as scoliosis, double vision from cranial nerve involvement, and issues with the vocal cords may also be seen.

Common signs include gait abnormalities, progressive weakness, and muscle wasting, mostly in the arms and legs. Foot deformities are also frequently reported. Some people may later experience involvement of muscles closer to the center of the body, along with additional issues such as scoliosis, cranial nerve deficits causing double vision, and difficulties with the vocal cords.

This condition is caused by mutations in the EGR2 gene, which plays a role in the proper function of nerves. Changes in this gene can result in problems with the insulation of nerve fibers, leading to slower nerve conduction and the symptoms seen in this condition. It is an inherited disorder, meaning it is passed down from parents to their children.

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.