CMT2D is caused by defects in the GARS gene, located on chromosome 7, which codes for an enzyme called glycyl-tRNA synthetase. It is involved in protein synthesis in the cell. The symptoms of CMT2D vary in patients, ranging from motor symptoms only to both sensory and motor symptoms.

What exactly is CMT?

Charcot-Marie-Tooth (CMT) disease is a group of disorders in which the motor and/or sensory peripheral nerves are affected, resulting in muscle weakness and atrophy as well as sensory loss. Symptoms occur first in the distal legs and later in the hands.

Is Charcot-Marie-Tooth a form of MS?

Charcot-Marie-Tooth disease type X (CMTX) may increase the risk of developing multiple sclerosis (MS), the most common central nervous system inflammatory demyelinating disease, according to data from a Greek study.