Charcot-Marie-Tooth Disease: A Close Look

Charcot-Marie-Tooth Disease: A Close Look

Charcot-Marie-Tooth Disease [CMT Disease] is a commonly inherited neurological disorder evident world wide. There is no particular race or age group that suffers from it. In the United States, approximately one out of 2,500 are affected with the disease (NINDS, 2007), around the world, the CMTA estimated that there are around 2.6 million people who are afflicted with the disease.

The disease is not fatal, however, the effects that it causes on the body is very detrimental, especially to the individual’s self-confidence. Despite its discovery in 1886 by Jean Martin Charcot, Howard Henry Tooth and Pierre Marie, no cure for the disease has yet been found. Thus many generations still suffer from the weakening effect of the disease to the body (CMTA).

CMT disease is also known as hereditary motor and sensory neuropathy [HMSN], a degenerative disorder in the nerves which causes weakness of the muscles as well as the atrophy in the forearms, hands, feet and legs. The patients gradually lose the normal functioning of the muscles in the extremities. They tend to degenerate as the disease progresses because the affected nerves loss proper stimulation (CMTA).


CMT disease is a form of mutation of the genetic makeup of the individual. It particularly affects the genes which are responsible for the production of genes and which are involved in the proper functioning of the peripheral nerve axon. The latter is a thin part of a cell which is used in order to send electrical signals from the nerve cell to the muscles. The abnormal functioning of the nerves cause them to gradually deteriorate and thereby fail to adequately send the information needed for the muscles to properly function. The failure of the nerves to send the necessary information causes atrophy in the hands, feet, arms and legs.

            The mutation in the genes is usually inherited. It takes the infection of one copy of the gene for the body to develop the disease. However, there are also instances wherein the disease is not a result of inherited genes. There are patients who suffer from the disease mainly because the abnormality or gene mutation spontaneously develops in their body (NINDS, 2007).

Signs and Symptoms of CMT Disease

            There are several types of CMT thus the signs and symptoms may not be similar to all. The severity thereof also varies based on type. The other symptoms of the disease also become evident as the disease goes through its different stages.

The first common characteristic of someone who is suffering from the disease is a high arched foot. While not all those who have high arched foot can be associated with the disease, more often than not, they possess the other symptoms of the disease (CMTA). The highly arched foot can be medically explained. The arching of the foot or the curling thereof is caused by the weakening of the muscles in the foot. As the muscles start to the weaken, an imbalance in the foot occurs subsequently, the muscles in the foot experiences an increased tension on the bottom part of the foot thereby giving rise to curled toes, another sign of CMT disease. This is particularly difficult for the patient as wearing shoes may be a challenge (Neurology Channel, 2000).

            As the disease progresses, another sign becomes prevalent and this is the change in locomotion or gait. The gradual weakening of the muscles affects the front of the leg thus, causing the swaying of the leg from side to side. Another is the slapping of the foot on the ground. The weakening of the muscles in the front leg causes the patient to drag his foot forward. He does not have the strength to pull it in order to have the next step that he needs. People who have this sign usually sway in order to progress in their walking (Neurology Channel, 2000).

            Aside from difficulty in wearing shoes and walking, the patient suffering from the disease may also experience difficulty in the use of his arms and hands. They may find simple tasks such as pulling the zipper or the door knob a challenge. Another complicated task is the buttoning of clothes and the holding of writing utensils. The muscles of these people have deteriorated to great levels that they can hardly complete tasks which for many people are just very simple. They need to have devises near them so that they can complete these tasks with ease (CMTA).

            As the nerve function continues to be lost, sensation in the hands and the feet also gradually deteriorate. The deterioration may even reach to a point wherein they are already numb. During such deterioration, the patient may experience burning and tingling sensation in the feet and the hands. The severity of the sensation differs from one individual to another. As the strength of the muscles gradually deteriorate; the hands and the feet become insensitive to feelings that the patients hurt themselves without actually feeling it. The patients eventually lose their sense of touch as well as their ability to perceive temperature changes. These changes also lead to the development of dry skin, hair loss as well as the ability to listen.

            Patients who are suffering from the disease also experience extreme sensitivity to temperatures which are below the normal. This pattern happens as a result of the loss of the muscle mass as well as the reduction of muscle activities and circulation which provide insulation to the body. Moreover, this could also lead to the bulging or swelling of body parts.

            There are also some patients who experience the Roussy-Levy syndrome or the experiencing of tremor in the hands or other body parts (CMTA). Curvature of the spine or scoliosis may also occur to many patients. In addition, a patient may also experience chronic fatigue or weakness. There might also be difficulty in obtaining balance and motor coordination (Neurology Channel, 2000).

Types and Pathophysiology

            There are five general types of CMT Disease and these are CMT Type1, CMT Type2, CMT Type3, CMT Type4 and CMT Type X.

            CMT Type1 is caused by the genetic abnormality in the myelin sheath. This is generally inherited and the most common type suffered by those infected with the CMT disease. Two thirds of those who are suffering from the disease have this type (CMTA).

CMT Type2 on the other hand is a result of the abnormality suffered by the axon of the peripheral nerve cell. One third of the dominant cases of CMT disease suffer from this kind. Individuals who suffer from this type come from different age groups. They also vary in the degree of the signs and symptoms or disability that they are suffering. Normally, people who have this type of disease suffer from loss of the senses, deformities in the feet and atrophy (CMTA).

CMT Type3 patients already have the signs and symptoms of the disease as early as infancy stage. Patients who are diagnosed with this type have very slow velocity of nerve conduction, suffer from skeletal defects as well as delayed motor milestones.

CMT Type4 is very rare. This is an inherited form. Patients who suffer from this kind have systematic symptoms like deafness and cataract (CMTA).

CMTX is caused by the point mutation of the X chromosome. Males who inherit the disease from their mothers exhibit moderate to severe symptoms of CMT disease from childhood to adolescence. Females on the other hand have the possibility of developing the mild symptoms of the disease during adolescence (NINDS, 2007).


            The signs and symptoms of CMT Disease become evident during early adulthood or adolescence however, there are also delayed cases wherein the symptoms appear during mid-adulthood. Unlike most diseases, the symptoms with this type of disease do not all appear in an instant. They gradually progress thereby causing muscle degeneration. Such deterioration leads to the weakening of the muscles and degeneration of the sensory nerves.

            While the effect of the weakening of the muscles lasts a lifetime, this does not serve as a hindrance in becoming productive. CMT is not a fatal disease and people who are diagnosed with the disease enjoy normal life expectancy. In addition, the signs and symptoms as well as the severity thereof vary from one individual to another. There are some who may suffer extreme difficulty while there are others who are already suffering from the disease without them having an idea that they already developed the disease (NINDS, 2007).

Available Treatments

            There is no known cure for the CMT disease in the present age. However, there are certain ways and means in order to lessen the negative effects thereof in the body. There are certain prescribed treatments and drugs which will help the individual in countering the disease.

            Prescription medications may be given to an individual who is already suffering from severe pain as a consequence then disease. Therapies on the other hand may be used to less severe patients. These therapies include physical therapy, occupational therapy and the use of orthopedic devices.

            Physical therapies for the disease include exercises which help in the strengthening of the muscles and stretching it in order to avoid the tightening of the muscles. Low impact exercises may also be used in order to delay the deterioration of the muscles and the nerves (Mayo Clinic, 2008).

            Occupational therapy on the other hand may be used in order to assist those who fail to adequately perform simple activities such as buttoning a dress or grasping and using writing materials. The employment if assistive devices may help these individuals in normally functioning (Mayo Clinic, 2008).

            Use of orthopedic devices may also help those patients who cannot freely move as a result of the disease. Orthopedic devices may help them in their daily mobile activities. These devices may also help the individual in avoiding injuries and in becoming utterly dependent on other people (Mayo Clinic, 2008).

            For those who are suffering from severe deformities in the feet, they may opt to undergo surgery in order to correct the abnormal shape of the foot. This process may help the individual in walking and going from one place to another (Mayo Clinic, 2008).

            CMTA also recommends maintaining a proper diet. A heavy body may seriously add the stress that the body is already feeling. Excess weight may cause greater difficulty in movement o5r locomotion. In addition, CMTA recommends stress management. The adverse effects of the disease on the physical make up of the individual may affect the way they feel about themselves. This can also lower their self-esteem and confidence in dealing with other people. Having a professional who will guide the patient in overcoming the disease may be helpful in easing the depression.

            As CMTA reiterates, the severity of the effects of the disease vary from one person to another, thus, there is no hard and fast rule on which is the ideal treatment. The treatment, just like the occurrence of the symptoms of the disease varies from one person to another. The severity of the symptoms and the muscles and nerves unaffected will determine which treatment is the best for the individual.

Questions on the Disease

            Despite the rich text on the disease, there are still many questions that are left unanswered by science thus, the need for further research. Studies are still being conducted in order to determine the other mutant genes as well as proteins which cause the different types of CMT disease. Research is also being conducted in order to determine the cure for the disease as well as find ways and means in order to combat the adverse defects thereof. There is a need to discover the mechanisms that cause muscle atrophy and degeneration as well as the ways and means in order to delay the deterioration thereof.


Charcot-Marie-Tooth Disease.(2008). Mayo Clinic. Retrieved 4 May 2009 from

Charcot-Marie-Tooth Disease. (2000). Neurology Channel. Retrieved 4 May 2009 from,

NINDS Charcot-Marie-Tooth Disease Information Page. (2007). National Institute of

Neurological Disorders and Stroke [NINDS]. Retrieved 4 May 2009 from,

Overview. Charcot-Marie-Tooth Disease Academy [CMTA]. Retrieved 4 May 2009 from,

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