Friedreich disease

Friedreich disease - a disease that is transmitted by an autosomal recessive type of inheritance, consists in the defeat of the structures of the nervous system and is characterized by impaired coordination of movements and damage to other organs and systems of the body, primarily by affecting the heart muscle. For the first time this disease was isolated in an independent form in 1863 by Friedreich and is one of the most common hereditary disorders of coordination of movements. The incidence of Friedreich disease in the population is 1-3 cases per 100 000 population. Among the parents of the patients there was an increased frequency of blood marriages. The disease has uneven geographic and ethnic distribution with accumulation in certain regions.

Disease refers to diseases of dynamic mutations. As a result of the gene mutation, the formation of the frataxin protein is reduced, resulting in the accumulation of iron in the cells. This, in turn, leads to excessive formation of under-oxidized metabolic products, which cause damage and death of cells of the spinal cord, peripheral nerves and their membranes, as well as the cerebral cortex. In addition, a typical form of damage to the heart muscle( myocardium), leading to the death of its fibers and replacement of the site of damage with connective tissue( fibrosis).

The first manifestations of the disease occur at the age of 10-20 years. The main sign of the disease is a violation of coordination of movements. At the same time, standing and walking are disturbed. The person begins to walk uncertainly, awkwardly, slowly, widely arranging his legs, often stumbling. As the disease progresses, there are disorders of coordination of movements in the hands, which is manifested by the deterioration of the letter, disproportionate movements, loss of control over distance and speed of movement, the force of muscle contraction. Appearance of redundancy or lack of amplitude of purposeful movements, rapid alternating movements are performed awkwardly, jitter occurs during movement. Mimicry changes, pronunciation is broken, speech becomes chanted. A characteristic and early sign of the disease is a decrease or complete extinction of tendon and periosteal reflexes. Muscle tone is reduced, sometimes significantly. A typical manifestation is also a decrease in joint-muscle and vibration sensitivity. In the late stages of the disease, a mild degree of paralysis can occur, affecting both legs( paraparesis), with tendon reflexes( knee, Achilles) appearing again. It is often possible to note the appearance of large-scale involuntary movement of eyeballs( nystagmus).In a number of patients, atrophy of the optic nerves occurs, which leads to a decrease or total loss of vision, hearing deteriorates, memory and intellect decreases.

Friedreich disease is a violation of other( except the nervous system) organs and systems. Most often this is manifested by heart damage and skeletal deformities. Characteristic signs of involvement in the pathological process of the heart muscle are pain in the heart, palpitations, shortness of breath during exercise, heart noise( determined by the doctor), ECG changes and echocardiography.

Skeletal deformities are characterized by the development of the curvature of the spine, the "foot of Friedreich"( shortening of the foot, the formation of an excessively high arch and the wrong position of the fingers: the proximal to the foot of the phalanx of the fingers are in the unfolded state, and the long ones are bent, which is especially pronounced on the big toe).In addition, infringements on the part of the endocrine system are often formed, manifested by diabetes mellitus, maldevelopment of genital organs and glands.

Friedreich disease has a rapidly progressive course. Gradually, signs of muscle atrophy increase, paresis occurs, coordination of movements is disrupted. Such people can not walk and serve themselves. The duration of the disease usually does not exceed 20 years. The immediate causes of death are heart failure, profound metabolic disorders in diabetes mellitus, and infectious complications. Some atypical cases of the disease with a later age of onset( 30-40 years), a slow benign course, a lack of diabetes mellitus, and typical changes in the heart are described.

Diagnosis of Friedreich disease does not raise any doubts in the case of presence of the following characteristic features in a person:

1) autosomal recessive type of inheritance;

2) the appearance of the first signs of the disease in the 1-2-th decade of life;

3) violation of coordination of movements, decrease or complete disappearance of reflexes, decreased sensitivity, weakness and atrophy of the muscles of the legs, and later of the hands;

4) skeletal deformities( curvature of the spine, "Friedreich's foot");

5) defeat of the heart muscle( with the presence of changes in the ECG and Echo KG);

6) endocrine disorders( diabetes mellitus, underdevelopment of the gonads and genital organs);

7) spinal cord atrophy from magnetic resonance imaging;

8) positive results in DNA testing.

Treatment. There is no effective treatment for this disease to date. Apply the means that improve metabolism, essentials inside and intravenously, riboxin, phosphaden( adenyl), retabolil, nootropics, B vitamins, coenzyme Q10, vitamin E( at a daily dose of 1000-2000 mg for 1-2 months).A good effect is brought by a variety of physiotherapy procedures, such as massage, exercise therapy, thermal procedures( ozocerite, paraffin) on the forearm and shins area, muscle electrical stimulation.