What is Charcot-Marie-Tooth disease?

CMT is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of CMT is generally a high arched foot or gait disturbances.

CMT disease can be divided into two classes, depending on where the dysfunction occurs in the peripheral nerves:

• In CMT type 1, the peripheral nerves’ axons – the part of the nerve cell that transmits electrical signals to the muscles – lose their protective outer coverings, their myelin sheaths. This disrupts the axons’ function.
• In CMT type 2, the axons’ responses are diminished due to a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at least six subtypes, caused by defects in different genes.

What are the most distinctive symptoms?

Other symptoms of the disorder may include foot-bone abnormalities such as

• high arches and hammer toes,
• problems with hand function and balance,
• occasional lower leg and forearm muscle cramping,
• loss of some normal reflexes,
• occasional partial sight
• hearing loss,
• in some individuals, scoliosis (curvature of the spine).

People with CMT disease usually begin to experience symptoms in adolescence or early adulthood.

Treatment

There is no cure for the disease, but there are treatment options, including physical therapy and bracing. Life expectancy is usually normal.

Is there a gene implicated in Charcot-Marie-Tooth?

The newly discovered GARS gene is implicated in CMT type 2D, a form of CMT that primarily affects the hands and the forearms. CMT type 2D is inherited in an autosomal dominant fashion.

Even though the GARS gene is implicated in only two specific types of CMT, this discovery will guide researchers in studying other forms of these diseases, as well as other neurological disorders.

Because carpal tunnel syndrome affects the hands and the forearms, scientists may now investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in Lou Gehrig’s disease are known to interact with a GARS family member.

Ultimately, the GARS gene and its family may provide a rich new resource for scientists investigating inherited and non-inherited neurological diseases.