Friedreich's Ataxia

Friedreich's ataxia is an autosomal recessive pathology when a sick child is born to a visually healthy couple, but one of the parents owns the disease gene. The disease is expressed in the defeat of nerve cells - the primary damage to Gaul's bundles, pyramidal pathways, rootlets and peripheral nerve fibers, cerebellar neurons, and the brain. At the same time, other organs can be affected: the cellular structures of the heart muscle, the pancreas, the retina of the eye and the musculoskeletal system are involved in the process.

[1], [2], [3], [4], [5]

Epidemiology

According to the world medical statistics, Friedreich's ataxia is the most common variant of ataxia. This disease affects an average of 2-7 patients per 100 000 people, and the carrier of the gene disorder is one person among 120.

Both men and women are affected. However, the disease does not affect persons of Asian and Negroid race.

[6], [7]

Causes of the friedreich ataxia

Friedreich's hereditary ataxia develops due to a deficiency or a breakdown in the structure of the frataxin protein produced intracellularly in the cytoplasm. The function of the protein is the transfer of iron from the energy organelles of the mitochondrial cell. The iron-accumulating ability of mitochondria is due to active oxidation processes in them. When the concentration of iron in the mitochondria increases more than tenfold, the amount of total intracellular iron does not exceed the limits of normal, and the amount of cytoplasmic iron decreases. In turn, this provokes stimulation of the gene structures that encode enzymes that carry iron - this is ferroxidase and permease. As a result, the balance of iron inside the cells is even more markedly disturbed.

The increased amount of iron inside the mitochondria causes an increase in the number of aggressive oxidants - free radicals, damaging vital structures (in this case, cells).

An auxiliary role in the etiology of the disease can play a disorder of antioxidant homeostasis - the protection of human cells from harmful active oxygen forms.

[8], [9], [10]

Symptoms of the friedreich ataxia

Friedreich's family ataxia, as we said above, is a hereditary disease. Nevertheless, the first signs of the disease appear only at the age of 8-23 years. At the same time, the initial clinic is clearly associated with ataxia, which affects the person's walk. The patient becomes unstable during walking, there is shakiness, weakness in the legs (legs seem to get tangled). There are difficulties in coordinating movements. Gradually, a person begins to experience difficulties with pronunciation.

Attributes of Friedreich's ataxia have the property of intensifying if the eyes are closed.

With the passage of time, the symptoms become permanent, moreover, the severity of clinical manifestations is increasing. The reason for this is the damage to the cerebellum, which is responsible for the coordination of limb movements.

Further, the patient has impaired auditory and visual functions. There is an important sign - a decrease or loss of natural reflexes and the appearance of pathological, for example, the Babinsky reflex is observed. The sensitivity in the limbs is reduced: the patient loses the opportunity to feel objects in the palms and support under his feet.

After a while, locomotor disorders are fixed in the form of paralysis or paresis. Begin such problems with the defeat of the feet.

Mental abilities, as a rule, are not violated. The disease grows gradually, over the course of dozens of years. Sometimes you can even notice short-term stable periods.

Among the accompanying signs, it should be noted the change in the shape of the bones of the skeleton: features are noticeable on the hands and in the area of the feet, as well as on the spinal column. There are problems with the heart, it is possible the development of diabetes, eye damage.

[11]

Diagnostics of the friedreich ataxia

Diagnosis of the disease can present certain difficulties, because in the initial stages, many patients turn to the cardiologist for help with heart problems, or to the orthopedist because of the pathology of the osteoarticular system or the spine. And only when a neurological picture is manifested, patients are in the office of a neurologist.

The main instrumental diagnostic methods for Friedreich ataxia are MRI and neurophysiological test.

Tomography of the brain helps to determine the atrophy of some of its areas, in particular, the cerebellum, the medulla oblongata.

Tomography of the spinal column determines the structure change and atrophy - these symptoms are more noticeable in the late stages of the disease.

The conductive function is examined by the following methods:

• transcranial magnetic stimulation;
• electroneurography;
• electromyography.

With extra-neural signs, auxiliary diagnosis is performed: the cardiovascular, endocrine, and musculoskeletal system is examined. In addition, it may be necessary to consult specialists such as a cardiologist, orthopedist, oculist, endocrinologist. A number of studies are being carried out:

• blood glucose level, glucose tolerance test;
• determination of the level of hormones in the blood;
• electrocardiography;
• tests with load;
• ultrasound examination of the heart;
• a roentgen of a backbone.

Particular importance in the diagnosis of ataxia is given to medical genetic counseling and complex DNA diagnostics. It is carried out on the materials of the patient himself, his closest relatives and parents.

In pregnant women, Friedreich's ataxia in a future child can be determined by analyzing the chorionic villus DNA from the eighth to the twelfth week of gestation, or by analyzing the amniotic fluid from week 16 to week 24.

Differentiate Friedreich's ataxia with hereditary tocopherol deficiency, with hereditary pathology of metabolic processes, with neurosyphilis, with neoplasms of the cerebellum, multiple sclerosis, etc.

[12], [13], [14], [15], [16]

Treatment of the friedreich ataxia

Treatment of the disease can not lead to healing, but in this way it is possible to prevent the development of certain consequences and difficulties. In order to slow down the increase in the symptoms of the disease, use mitochondrial group medicines, antioxidants and other drugs that lower the concentration of iron inside the mitochondria.

Drugs are usually prescribed in a complex, at least 3 drugs at a time. Antioxidants are used, for example, tocopherol and retinol, as well as an artificial analogue of coenzyme Q 10 (idebenon), inhibiting neurodegenerative processes and increasing myocardial hypertrophy-cardiomyopathy.

In addition, for the treatment use means that improve the metabolic processes in the heart muscle: it is recommended to take riboxin, preductal, cocarboxylase, etc.

In most cases, prescribe 5-hydroxyprophane, the effect of which is noticeable, but this drug is not fully investigated.

Ancillary treatment is prescribed according to symptoms - for example, antidiabetic drugs, cardiovascular drugs.

Conducting general strengthening therapy (vitamin complexes), improving tissue metabolism (piracetam, cerebrolysin, aminalone).

According to the indications, surgical intervention in the form of correction of the shape of the feet and the use of Botox in the spasm affected muscles is possible.

Physiotherapy and gymnastics can significantly improve the effectiveness of treatment. But for a persistent effect, sessions and sessions should be regular, with emphasis on balance training and muscle strength.

Since Friedreich's ataxia is the result of gene disorders, which can not be reversible, alternative recipes in the treatment of this disease do not work.

In nutrition, patients with ataxia should reduce or eliminate the consumption of carbohydrate foods, since the disease is associated with an excess of energy in the cells. A large number of carbohydrates (sweets, sugar, baking) can lead to a worsening of the patient's condition.

Prevention

A special role in prevention is assigned to DNA testing at the initial pre-symptom stages, for the timely initiation of preventive treatment.

Undoubtedly, the direct relatives of an already diagnosed sick person are being examined. Initially, the disease can be suspected by clinical signs: the appearance of ataxia, a decrease in muscle tone, sensitivity disorder, the disappearance of tendon reflexes, the development of paresis, polyneuropathies, signs of ECG disease, the onset of diabetes mellitus, changes in the osteoarticular system, atrophic processes (in particular, in optic nerves), curvature of the spinal column, etc.

Periodic monitoring and supervision of a neuropathologist, endocrinologist is necessary. A great preventive value is also given to medical gymnastics and physiotherapeutic treatment.

[17], [18], [19], [20]

Forecast

Friedreich's ataxia is an incurable and dynamically progressing disease that gradually worsens the patient's condition and eventually leads to fatal consequences. Usually the patient dies from a lack of cardiac activity or from a spasm of the respiratory system, less often from infectious diseases.

Unfortunately, about half of all Friedreich's ataxia patients are not able to live up to the 35th anniversary. However, the prognosis of the disease in the female is considered more favorable: as a rule, all women with this diagnosis definitely live at least 20 years from the onset of the disease. For men, such an indicator is equivalent to only 60%.

Very rarely patients live to the advanced age, provided there are no disorders from the heart and diabetes.