Application for Treatment

Under leukodystrophy understand a group of inherited diseases of the nervous system, which are accompanied by disturbances of the process of myelination. To date, identify several forms of the disease:

- Metachromatic leukodystrophy Scholz. Caused by a lack of the enzyme arylsulfatase. In the body there is an overabundance of sulfatide patient that lead to the destruction of myelin;

- Adrenoleukodystrophy. In the tissues of patients with fatty acids accumulate excessively long chains, leading to impairment of the structure and function of myelin;

- Krabbe disease or globoid cell leukodystrophy. Caused by dysfunction in the development galaktotserebrozidazy, leading to an oversupply of substances that have toxic effects on the myelin sheath.

There are other, very rare form of leukodystrophy. In any case, the disease is disturbed metabolism of myelin - the substance forming the sheath nerve sprouting providing signaling nervous system.

Myelin is made up of different components, and its operation is provided by a variety of genes. Defect in any of the genes leads to disruption of the creation of myelin sheaths, inability to maintain them in good condition. As a result of rapidly slowing the transmission of nerve signals, formed the intellectual and motor disorders, decreased perception of signals from the sensory organs. The more myelin is destroyed, especially disorders amplified - for several years the disease progresses to profound mental and physical degradation and death.

Most often leukodystrophy manifested in the preschool age, sometimes as early as the first months of life. It is important to establish the age at which symptoms first appeared - this will determine the prognosis of disease development (usually than before symptoms appear, the disease develops rapidly), will allow to plan a bone marrow transplant, if possible.

Symptoms of leukodystrophy

Leukodystrophy - a very rare disease. Most frequent adrenoleukodystrophy - one case per 40,000 male births. There is so rare forms that the world described in only a few hundred cases.

At birth, babies with leukodystrophy, in most cases look healthy to a certain point and develop normally. But then begin to show symptoms of CNS. Thus, among the first symptoms of movement disorders are distinguished: deteriorating motor coordination, balance, baby has difficulty running and walking. Then there is abnormally low or increased muscle tone, seizures appear. With the development of the disease in the patient is reduced intelligence, memory, hearing and vision deteriorates. Child loses previously acquired intellectual and motor skills, rolling away in the development ago. For advanced stages characterized by blindness, paralysis, deafness, problems with swallowing food.

Treatment leukodystrophy

To date, the only opportunity to slow or stop the progression of the disease is allogeneic bone marrow transplantation.The most encouraging in this respect is the treatment in Germany, where the patient will be able to offer the most adequate conditions of treatment.

If successful allogeneic bone marrow transplantation results in normalization of the protein, and hence to improve the quality of life of patients to increase life expectancy. It is very important to spend time to transplant as soon as possible, before the development of obvious neurological disorders, as transplantation does not correct already caused CNS and slows or stops the further progression of the disease.

It is important to consider the speed of the disease, as in the treatment of rapidly growing forms of leukodystrophy even transplantation can not prevent severe disability or death of the patient - the fact that after transplantation need to wait a certain time (for some forms - it is 12 or even 24 months) while donor cells provoke the normal operation of myelin - until that happens, the disease will continue.

In cases where bone marrow transplantation is not recommended or not possible, palliative therapy is conducted, designed to relieve the symptoms of the disease. Modern medicine is actively working towards the establishment of new therapeutic approaches, but still remains at the level of experimentation.

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