Charcot Marie tooth disease is a neurological disorder. It is commonly known as peroneal mascular atrophy or hereditary motor and sensory neuropathy. Charcot Marie tooth disorder as been abridged as CMT. It is name the name given to the group of conditions in which the nerve of the muscles specially the muscles of the lower hands and legs stops functioning properly.

In this disease nerves carrying the sensory signal to the brain also get affected and this can further lead to altered sensation in the affected areas. It is a heterogeneous genetic disorder of the nerves that leads to the reduced sensation of touch and loss of the tissue of the muscles especially in legs, feet, hands and arms. Charcot Marie tooth disease is a very rare disease and it affects in one in every thousand people.

Charcot Marie Tooth Disease Causes

The researchers of this disease claimed that this is a genetic disease. In most of the cases it occurs in an individual due to autosomal dominant condition but in some other cases it is inherited due to x-liked pattern or autosomal recessive.

Diagnosis of Charcot Marie Tooth disease can be done with the combination of genetic test on blood as well as with electrical nerve tests. Electrical nerve test is very effective as the abnormalities in an individual can be dfrom the age of five. Diagnosis can also be done during pregnancies with the help of CVS in those families where this genetic disorder has been seen.

Types of Charcot Marie Tooth Disease

There are two main types of Charcot Marie tooth disease namely demyelinating CMT which is also known as CMT1 and axonal CMT, also known as CMT2. In demyelinating CMT the myelin covering, that provides nutrients to the nerves by insulating, gets affected. On the other hand in axonal CMT the fibres of the nerve get directly affected.

These two different types of CMT can further be classified into 30 different types according to the pattern of inheritance and mutation of the specific gene. The symptoms of each of these types are however similar.

Symptoms of Charcot Marie Tooth Disease

Symptoms of this disease generally begin from early adulthood or late childhood. There are some CMT1 that does not show any symptoms but there are some others that show symptoms. One of the most common symptoms of Charcot Marie Tooth Disease is difficulty in walking. In severe cases the patient completely loss the capacity of walking.

This is because the poroneal muscles on the outer part of the calves get affected in this disease, which leads to foot drop and weakness and wasting of the leg. Secondly, the sensation and reflexes in legs reduces. In some cases this disease may also lead to claw toe where the toes get curled.

Symptoms are also evident in hands and then in arms. Weak muscles in hands make it difficult for the individual to carry out their daily choir as dexterity and strength gets reduced. In addition to this, an individual suffering from this disease also experience cold hand and feet. Sometimes some individual also experience curvature of the spine and tremor.

The progression and the type of symptoms in this disease however vary from individual to individual. Some people experience breathing problem where as some may also experience problems related to eye, ear, shoulder and neck muscles. Sometimes hip sockets are malformed and problems related to the gastro intestinal may also be experienced in this disease.

The spread of this disease is usually slow and most of the people are only mildly affected. In about 20%of the affected people the symptoms are not seen and can be diagnosed through electrical nerve test.

Treatment of Charcot Marie Tooth Disease