Friedreich's ataxia disease

August 12, 2017 17:51 | Genetic Diseases

disease Friedreich's ataxia - a disease that is transmitted in an autosomal recessive inheritance, is the defeat of the structures of the nervous system and is characterized by impaired motor coordination and involvement of other organs and body systems, especially the defeat of the heart muscle.For the first time the disease is allocated in independent form in 1863, Friedreich's ataxia and is one of the most common types of hereditary disorders of motor coordination.The incidence of the disease Friedreich's ataxia in the population is 1-3 cases per 100 000 population.Among the parents of patients had increased frequency of blood marriages.The disease has an uneven geographical and ethnic distribution of the accumulation of in some regions.

disease refers to diseases of dynamic mutations.As a result of gene mutation occurs frataxin reduced production of the protein, resulting in the accumulation of iron in the cells.This in turn leads to excessive formation of oxidized products of metabolism, which ca

uses damage and death of spinal marrow, peripheral nerves and their sheaths, and cerebral cortex.In addition, it is developing the typical form of the defeat of the heart muscle (myocardium), leading to the death of its fibers and replacement of the injury site by connective tissue (fibrosis).

first manifestations of the disease occur at the age of 10- 20 years.The main symptom of the disease is poor coordination of movements.In this case violated state and gait.The man begins to walk hesitantly, awkwardly, slowly, legs wide apart, often stumbling.As the disease progresses, motor coordination disorder appear in the hands, which is manifested deterioration letters disproportionate movements, loss of control over the distance and speed of movement, the force of muscle contraction.Appears excessive or insufficient amplitude purposeful movements, rapid alternating movements are performed awkwardly, the motion arises tremor.Changing facial expression, impaired pronunciation, it becomes a chant.A characteristic and an early sign of the disease is the reduction or complete extinction of the tendon and periosteal reflexes.Muscle tone decreases, sometimes significantly.A typical manifestation is also a reduction in joint and muscle and vibration sensitivity.In the later stages of the disease may develop mild paralysis that affects both legs (paraparesis), and the tendon reflexes (knee, ankle) reappear.Often, you can note the appearance krupnorazmashistogo involuntary eye movement (nystagmus).In some patients there is an atrophy of the optic nerves that leads to a reduction or complete loss of vision deteriorates hearing loss of memory and intellect.

disease Friedreich's ataxia characterized by violation of other (except for the nervous system) organs and systems.Most often this manifests the heart lesions and skeletal deformities.Characteristic signs of involvement in the pathological process of cardiac muscle are a pain in the heart, palpitations, shortness of breath on exertion, heart murmur (determined by the physician), changes in the ECG and echocardiography.

skeletal deformation characterized by the development of spinal curvature, "feet Friedreich's ataxia" (shortening of the foot, the formation of an excessively high arch, and malposition finger proximal to the foot phalanges are in the unbent state, and long - bent, which is especially pronounced on the big toe).In addition, quite often formed disorders of the endocrine system, manifested diabetes, underdevelopment of sexual organs and glands.

disease Friedreich's ataxia is rapidly progressive course.Gradually growing signs of muscle atrophy, there paresis, impaired coordination of movements.Such people can not walk on their own and take care of themselves.The duration of the disease does not usually exceed 20 years.The immediate causes of death are heart failure, profound metabolic disorders in diabetes, infectious complications.We describe some atypical cases with a later age of onset (30-40 years), slow benign course, the absence of diabetes, and the typical changes in the heart.

diagnosis of Friedreich's ataxia disease there is no doubt in the case of the presence of a person following characteristic features:

1) autosomal recessive inheritance;

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

3) coordination of movements, reduction or complete disappearance of reflexes, decrease in sensitivity, weakness and atrophy of the leg muscles, and later hand;

4) skeletal deformation (curvature of the spine, "Stop Friedreich's ataxia");

5) damage to the heart muscle (the presence of changes in the ECG and echocardiography);

6), endocrine disorders (diabetes, hypoplasia of gonads and genitals);

7) atrophy of the spinal cord according to magnetic resonance imaging;

8) positive results in DNA research.

treatment. Effective treatment of this disease to date is missing.Apply tools to improve metabolism - inside and Essentiale intravenously Riboxinum, fosfaden (adenyl) retabolil, nootropics, vitamins, coenzyme Q10, vitamin E (a daily dose of 1000-2000 mg for 1-2 months).Good effect bring a variety of physical therapy, such as massage, physiotherapy, thermal procedures (ozokerite, paraffin) on the forearms and legs, muscle electrostimulation.