CHARCOT-MARIE-TOOTH DISEASE

Charcot-Marie-Tooth disease (CMT) is not a disease affecting the teeth. On the contrary, it is one of the most common inherited neurological disorders, affecting about 1 in 2,500 people in the United States. It is named after the three physicians who discovered it in 1886 – Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy. This disease consists of a group of disorders that affect the peripheral nerves. These nerves reside outside the brain and spinal cord and supply the muscle and sensory organs of the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathy.

SYMPTOMS

Both sensory and motor nerves are affected by the neuropathy of CMT. The motor nerves cause muscles to contract and they control voluntary actions such as speaking, walking, breathing, and swallowing. Another typical symptom involves weakness in the foot and lower leg muscles, which may result in foot drop or a high gait that causes frequent trips and falls. Foot deformities are also common, such as high arches and hammertoes due to weakness in the small muscles in the feet. In addition, the lower leg muscles may take on an inverted champagne bottle appearance because of the loss of muscle bulk. As the disease progresses, weakness and muscle atrophy may occur in the hands, which result in difficulty in performing fine motor skills.

THE CAUSE

CMT is caused by mutations in the genes that produce proteins involved in the structure and function of the myelin sheath or the peripheral nerve axon. The axon is the long part of the peripheral nerve cell that communicates information to distant target areas by electrical signals. Myelin is the substance that twists around the axon in a jelly roll fashion and prevents the loss of the electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate distant muscles or relay sensory information from the limbs to the brain.

The gene mutations of CMT are usually inherited. Each of us carries two copies of every gene, one from one parent and another from the other parent. In some forms of CMT, only one copy of the abnormal gene need be present in order to have the disease. In other forms, both copies of the abnormal gene have to be present. Still other forms have to have the abnormal gene present on the X chromosome in order to have the disease. People have either the XX chromosome combination (which means a girl) or the XY combination (which means a boy). On the other hand, there is a rare form of CMT in which the mutation occurs spontaneously in the individual’s genetic makeup without being inherited from parents.

TYPES OF CMT DISEASE

There are many forms of CMT disease, including CMT1, CMT2, CMT3, CMT4, and CMTX. CMT1 results from abnormalities in the myelin sheath. Patients with this type experience weakness in the lower legs beginning during adolescence. Later, they experience weakness in the hands and sensory loss. CMT2 results from abnormalities in the axon of the peripheral nerve.

CMT3 or Dejerine-Sottas disease has to do with the myelin sheath and is a severe neuropathy that starts at infancy. Infants with this disease have severe muscle atrophy, weakness, and sensory problems.

CMT4 is composed of several different subtypes of motor and sensory neuropathies. Each one involves abnormalities in the myelin sheath. Each one is causes by a different genetic mutation, may affect a different ethnic population, and results in distinct physical and clinical symptoms. Those affected by CMT4 develop leg weakness in childhood and may not be able to walk by the time they reach adolescence.

CMTX results in different symptoms based on whether the person is male or female. Boys who inherit the mutated gene from their mothers display moderate to severe symptoms of the disease beginning in late childhood or adolescence. Girls who inherit the mutated gene from one parent and the normal gene from the other parent may develop mild symptoms in adolescence or later or may not develop symptoms at all.

TREATMENTS FOR CMT

Currently, there is no cure for CMT. However, physical and occupational therapies, braces and other orthopedic devices, and orthopedic surgery can offer hope to those suffering from the symptoms of this disease. In addition, pain-killing drugs can be prescribed for those who suffer from pain.

Physical and occupational therapy involve muscle strength training, muscle and ligament stretching, stamina training, and moderate aerobic exercise. Stretching may prevent or reduce joint deformities that result from uneven muscle pull on bones. Exercises to help build stamina or increase endurance will help prevent the fatigue so prevalent from performing everyday activities that require strength and mobility. Patients need to enter a program early to prevent further atrophy of the muscles and nerve degeneration progress to the point of disability.

Many patients require braces and other orthopedic devices to maintain mobility and prevent injury. Ankle braces, high top shoes or boots, and thumb splints are available to help. Assistive devices should be used before disability sets in because the devices may prevent muscle strain and muscle weakening. Some CMT patients may opt for the orthopedic surgery to reverse foot and joint deformities.

Charcot-Marie-Tooth disease is a very serious, disabling disease. It needs to be treated aggressively upon diagnosis to provide the maximum chance for the individual to cope with this debilitating condition. Although there is no cure at this time, there are many options to be discussed in order to determine the best route of treatment. Through physical and occupational therapies, orthopedic devices, pain medications, and orthopedic surgery, patients with CMT can find help so that they can reach their potential as productive individuals.

 

 

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