Charcot-Marie-Tooth disease – Hereditary motor and sensory neuropathy

Charcot-Marie-Tooth Disease (Hereditary Motor and Sensory Neuropathies; HMSNs)

Description of the disease, Charcot-Marie-Tooth

Charcot Marie tooth disease (CMT) – a group of genetic disorders, that affect the movement and sensation in the limbs. The disease progresses slowly and causes damage to peripheral nerves. These nerves control the movement of muscles and transmit sensation from the extremities to the brain.

The causes of the disease, Charcot-Marie-Tooth

CMT is caused by defects in specific genes (genetic mutation).

CMT can be classified into several types:

• Тип I (demyelinating) – This type of disease affects the coating of nerves ( myelin sheath), whereby the nerve impulses are transmitted very slowly. Disease usually occurs in childhood or adolescence. This is the most common type of CMT;
• Тип II (axonal) – This type affects the part of the nerve, called axons. Although the rate of the normal transmission of nerve impulses, their strength, or the amount is less, than usual. This type of CMT is less common and occurs after adolescence;
• Тип III, also called Dejerine-Sottas disease – rare, heavy, an early form of CMT, sometimes viewed as a subtype of CMT Type I. Symptoms may include:
  • Delayed ability to walk due to weakness of the leg muscles;
  • Severe problems touch;
  • Hearing loss;
• Тип IV (demyelinating autosomal recessive) – similar to the type I, but often less severe symptoms. This type of CMT, It is likely to be inherited by the children of the patient.

Risk factors for the disease, Charcot-Marie-Tooth

The main risk factor for developing CMT is having a family member with the disease.

Symptoms of Charcot-Marie-Tooth

Usually, the first symptoms appear in children and young people. The first sign is often a high arch ŠMT arch or difficulty walking. Other symptoms may include:

• Hammer toes;
• Decreased sensation in the legs and feet;
• Muscle cramps in the legs and forearms;
• Bent toes;
• Difficulty moving the leg in a horizontal position;
• Frequent sprained ankle and a broken foot;
• Problems with balance;
• Muscle weakness in the lower extremities, that may spread to the upper limb;
• Decreased ability to distinguish the touch of hot and cold items, vibration;
• The difficulty with the letter, buckling the buttons and zippers, fine motor skills;
• Delay in training walking (тип III).

Diagnosis of the disease Charcot-Marie-Tooth

The doctor will ask about your symptoms and medical history, and perform a physical examination. It can be tested nerve and muscle function. For these purposes,:

• Nerve conduction study;
• Electromyogram (DOH).

Also, the doctor may prescribe could study DNA. This can be done by analyzing the blood.

Treatment of the disease Charcot-Marie-Tooth

CMT Although there are no treatments, used technique, helping to improve the functioning of, coordination and mobility. Treatment is also essential to protect against injury due to muscle weakness and reduced sensitivity. Treatment may include:

• Physiotherapy and occupational therapy;
• Moderate exercise;
• Supported devices on the lower legs;
• Inserts in shoes to correct foot deformities;
• Foot care and regular inspection of the feet with a specialist;
• Orthopedic Surgery.

Preventing disease Charcot-Marie-Tooth

There is no way to prevent CMT. If you have CMT or CMT, there are risk factors, you can consult with a genetic advisor, before they have children.