Charcot-Marie-Tooth disease and its impact

Charcot-Marie-Tooth (CMT) disorder is named after three scientists — two French and one British — who first described the disease in 1886. CMT is a progressive inherited neurological disorder that destroys the nerves in the feet, hands, legs and arms. If Charcot-Marie-Tooth is not diagnosed correctly, you could spend years living in unnecessary pain.

The diagnosis of Charcot-Marie-Tooth requires several avenues to be tested. These include: clinical examination, nerve testing, muscle biopsies, electromyography (examines muscle response to stimuli) or spinal fluid testing.  CMT affects one in 2500 people and has been found by the ANZAC Research Institute to be caused by over 40 different genes.

The first signs of CMT involve the loss of muscle mass in the hands, calves and legs. It frequently starts with a pain in the foot and is usually accompanied by the prescription of arch supports as early as teenage years. Eventually, the ankles begin to turn inwards, which affects walking and stretching, creating a depression in that area due to pain from irregular positioning of the feet. The most common symptoms are numbness, tightness, burning sensations, shooting pains, muscle cramps or weakness in limbs.

As it progresses, CMT disease can spread into the upper legs, hips and shoulders, sometimes causing loss of normal movement in the limbs. The nerve system can degenerate alongside the weakened muscles, resulting in a loss of feeling. This means a larger stimulus is required by the nerve in order to feel anything. Sometimes, this nerve degeneration can be accompanied by a degeneration of sensory perception as well.

CMT symptoms can be mistaken for clumsiness, which is often why children who have the disease are overlooked. If a child is a slow runner or falls over quite often, it is possible that they may not be clumsy but are exhibiting early signs of CMT.

CMT is one of the most common inherited neurological diseases and many people are unaware of its existence or effects, but it is not life threatening. Technically, CMT is not a single disease but a group of similar hereditary diseases leading to nerve deterioration and sensory dulling. It targets both sexes equally and is not subject to a particular ethnic race.

As CMT progresses, deformities can also take hold, presenting problems with walking, running, balance and writing. Sleep can also be affected and sufferers should do light exercise. In more extreme cases, foot surgery and custom inserts can help combat CMT and its effects.

Once CMT is diagnosed, it is important to treat the entire body to ensure its spread and effects are reduced. There is no cure or magic treatment for the affliction, but proper nutrition and supplements can make the body more resistant to its effects by raising immunity.

Current research is underway to identify the genes responsible for CMT, so as to possibly counteract it through gene therapy.

It’s a good idea, if you have symptoms mirroring this disease, to contact your doctor and natural therapist to work together on your vitamin supplementation and diet to enhance your immunity.