Charcot-Marie-Tooth disease type 2D

Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of a peripheral nerve disorder that affects the nerves controlling muscles, especially in the arms. It is classified as an axonal neuropathy, which means it mainly impacts the nerve fibers responsible for transmitting signals to and from the muscles. People with this condition typically experience weakness that starts in the limbs, with the upper limbs being more predominantly affected. Over time, the condition progresses slowly, and changes in tendon reflexes in both the arms and legs may be observed.

Common signs of CMT2D include muscle weakness that often affects the arms more than the legs, as well as reduced or absent tendon reflexes in the arms and decreased reflexes in the legs. These symptoms are part of a broader pattern seen in peripheral sensorimotor neuropathies.

CMT2D is caused by genetic changes in the GARS1 gene and follows an autosomal dominant pattern. This means that a change in just one copy of the gene inherited from a parent can lead to the condition. Genetic testing can help identify this mutation.

Information about treatment is currently limited for this condition.

The progression of CMT2D is described as slow. People with this condition may experience a gradual increase in muscle weakness over time. However, the overall course of the condition varies and is influenced by individual factors.

Information about research is currently limited for this condition.