Ataxy (from Greek ataxia — a disorder) — disorder of coordination of movements; very often found motility violation. Force in extremities is slightly lowered or kept completely. The movements become inexact, awkward, their continuity and the sequence falls apart, balance in a standing position is broken and when walking. A static ataxy — violation of balance in a standing position, a dynamic ataxy — an incoordination at the movement. Diagnostics of an ataxy includes neurologic survey, brain EEG, EMG, MRT, at suspicion on the hereditary nature of a disease - the analysis of DNA. Therapy and the forecast of development of an ataxy depend on the reason of its emergence.
Ataxy (from Greek ataxia — a disorder) — disorder of coordination of movements; very often found motility violation. Force in extremities is slightly lowered or kept completely. The movements become inexact, awkward, their continuity and the sequence falls apart, balance in a standing position is broken and when walking. A static ataxy — violation of balance in a standing position, a dynamic ataxy — an incoordination at the movement.
Normal coordination of movements is possible only at the high-automated and sodruzhestvenny activity of a number of departments of TsNS — conductors of deep-muscular sensitivity, a vestibular mechanism, bark of temporal and frontal areas and a cerebellum — central body of coordination of movements.
Classification of an ataxy
In clinical practice distinguish several types of an ataxy:
- sensitive (or zadnestolbovy) an ataxy — violation of conductors of deep-muscular sensitivity;
- cerebellar ataxy — damage of a cerebellum;
- vestibular ataxy — damage of a vestibular mechanism;
- cortical ataxy — defeat of bark of temporal and occipital or frontal area.
Emergence of a sensitive ataxy is caused by defeat of back columns (Gaulle and Burdakh's bunches), is more rare than back nerves, peripheral knots, bark of a parietal share of a brain, a visual hillock (funikulyarny , a back sukhotka, tumors, vascular disorders). Its manifestation, both in all extremities, and in one leg or a hand is possible. The phenomena of the sensitive ataxy resulting from frustration of articulate muscle sense in the lower extremities are most indicative. The patient is unstable, when walking excessively bends legs in coxofemoral and knee joints, too strongly goes into a floor (the stamping gait). Often there is a feeling of walking on cotton wool or a carpet. Patients try to compensate disorder of motive functions by means of sight — when walking constantly look to themselves under legs. It allows to reduce considerably manifestations of an ataxy, and closing of eyes, on the contrary, aggravates them. Severe defeats of back columns practically deprive of an opportunity to stand and go.
Cerebellar ataxy — a consequence of defeat of a worm of a cerebellum, its hemispheres and legs. In Romberg's pose and when walking the patient is filled up (up to falling) towards the affected cerebellum hemisphere. In case of defeat of a worm of a cerebellum falling in any party or is possible back. The patient reels when walking, widely puts legs. Flank gait is sharply broken. The movements razmashist, are slowed down and awkward (more from the affected cerebellum hemisphere). Disorder of coordination is almost invariable at sight control (the opened and closed eyes). Violation of the speech is observed — it is slowed down, becomes stretched, tolchkoobrazny, quite often chanted. Handwriting becomes wide, uneven, the makrografiya is observed. Decrease in a muscular tone (more on the party of defeat), and also violation of tendinous reflexes is possible. The cerebellar ataxy can be a symptom of encephalitis of various etiology, multiple sclerosis, a malignant new growth, the vascular center in a trunk or a cerebellum of a brain.
The vestibular ataxy develops at defeat of one of sections of a vestibular mechanism — a labyrinth, a vestibular nerve, kernels in a trunk of a brain and the cortical center in a temporal share of a brain. The main sign of a vestibular ataxy is system dizziness (to the patient it seems that all objects surrounding it move in one direction), at turns of the head dizziness amplifies. In this regard the patient randomly is unsteady or falls, and the head makes the movements with noticeable care. Besides, nausea, vomiting and horizontal are characteristic of a vestibular ataxy. The vestibular ataxy is observed at stem encephalitis, ear diseases, tumors of the IV ventricle of a brain, and also at Menyer's syndrome.
Development of a cortical ataxy (frontal) is caused by the damage of a frontal lobe of a brain caused by dysfunction frontal systems. At a frontal ataxy in the maximum degree the leg, contralateral to the struck cerebellum hemisphere suffers. When walking instability (more on turns), an inclination or a zavalivaniye aside, ipsilateralny to the struck hemisphere is observed. At severe damages of a frontal lobe patients cannot go and stand at all. Sight control does not affect expressiveness of violations when walking in any way. Also other symptoms characteristic of damage of a frontal lobe — a hvatatelny reflex, changes of mentality, violation of sense of smell are peculiar to a cortical ataxy. The Simptomokompleks of a frontal ataxy is very similar to a cerebellar ataxy. The main difference of damage of a cerebellum is evidential hypotonia in an ataktichny extremity. The reasons of a frontal ataxy — abscesses, tumors, violations of brain blood circulation.
Hereditary a cerebellar ataxy of Pierre-Mari — a hereditary disease of the chronic progressing character. It is transferred on autosomno-prepotent type. Its main manifestation — a cerebellar ataxy. The pathogen possesses a high penetrantnost, the admission of generations meets very seldom. A characteristic pathoanatomical sign of an ataxy of Pierre-Mari is the cerebellum hypoplasia, is more rare — an atrophy of the lower olives, the bridge of a brain (a varoliyev of the bridge). Often these signs are combined with the combined degeneration of spinal systems (the clinical picture reminds a spinotserebellyarny ataxy of Fridreykh).
Average age of an onset of the illness — 35 years when gait violation appears. Subsequently violation of a mimicry, the speech and an ataxy in hands joins it. The static ataxy, , a dismetriya is observed. Tendinous reflexes are raised (to pathological reflexes). Involuntary muscular starts are possible. Force in muscles of extremities is reduced. It is observed the progressing glazodvigatelny violations — paresis of the taking-away nerve, , insufficiency of a konvengertion, is more rare — Argayl Robertson's symptom, an atrophy of optic nerves, decrease in visual acuity, narrowing of fields of vision. Mental violations are shown in the form of depressions, decrease in intelligence.
Family ataxy of Fridreykh — a hereditary disease of the chronic progressing character. It is transferred on autosomno-prepotent type. Its main manifestation — the mixed sensetivno-cerebellar ataxy resulting from the combined defeat of spinal systems. Blood marriages very often occur among parents of patients. A characteristic pathoanatomical sign of an ataxy of Fridreykh — the accruing degeneration of side and back columns of a spinal cord (to a medulla). More Gaulle's bunches are surprised. Besides cages of columns of Clark, and together with them and a back spinotserebellyarny way are struck.
The main symptom of an ataxy of Fridreykh — the ataxy which is expressed in uncertain, clumsy gait. The patient walks widely, deviating the center in the parties and widely putting legs. Sharko designated such gait as tabeticheski-cerebellar. With development of a disease the diskoordination extends to hands, muscles of a thorax and a face. The mimicry changes, the speech becomes slowed down, tolchkoobrazny. Tendinous and nadkostnichny reflexes are considerably lowered or are absent (first of all standing, further and on the top extremities). Hearing is in most cases reduced.
With development of an ataxy of Fridreykh ekstranevralny violations — damages of heart and change of a skeleton are shown. On the ECG — deformation of a predserdny tooth, violation of a rhythm. The pristupoobrazny heartache, tachycardia, short wind is observed (as result of physical tension). Changes of a skeleton are expressed in characteristic change of a form of foot — tendency to frequent dislocations of joints, to increase in the arch and ekstenziya of fingers, and also . Among the endocrine violations accompanying Fridreykh's ataxy diabetes, a gipogonadizm, infantility are noted.
Ataksiya-teleangiektaziya (Louis Bar syndrome) — the hereditary disease (group of fakomatoz) which is transmitted on autosomno-recessive type. Very often is followed by a disgammaglobulinemiya and a hypoplasia of a thymus. Development of a disease begins at early children's age when the first atactic frustration are shown. Further the ataxy progresses and by 10 years walking is almost impossible. Quite often Louis Bar syndrome is followed by extrapyramidal symptoms (giperkineza of mioklonichesky and atetoidny type, a gipokineziya), intellectual backwardness, damage of cranial nerves. The bent to repeated infections (rhinitises, sinusitis, bronchitis, pneumonia) is characteristic that first of all is connected with insufficiency of immunological reactions of an organism. Due to the deficiency of T-dependent lymphocytes and immunoglobulins of a class A, the risk of emergence of malignant new growths is high.
- Tendency to repeated infectious diseases.
- Chronic heart failure.
- All types of respiratory insufficiency.
Diagnostics of an ataxy
Diagnosing of an ataxy is based on identification of diseases in a family of the patient and existence of an ataxy. Brain EEG at Pierre Mari's ataxy and Fridreykh's ataxy reveals the following violations: diffusion delta and theta activity, alpha rhythm reduction. In laboratory researches violation of exchange of amino acids is observed (concentration of a leucine and an alanina is reduced, also reduced their ekskretion with urine). On MRT of a brain the atrophy of trunks back and a brain, and also the top departments of a worm is found. By means of an electromyography reveal aksonalno-demiyeliniziruyushchy defeat of touch fibers of peripheral nerves.
At differentiation of an ataxy it is necessary to consider variability of a clinical picture of an ataxy. In clinical practice rudimentary kinds of an ataxy and its transitional forms when clinical manifestations are similar to symptoms of a family paraplegia (spastic), neural amyotrophy and multiple sclerosis are observed.
Diagnosing of a hereditary ataxy requires performing direct or indirect DNA diagnostics. By means of molecular and genetic methods diagnose an ataxy for the patient then carry out indirect DNA diagnostics. With its help establish a possibility of inheritance of a pathogen of an ataxy by other children in a family. Performing complex DNA diagnostics is possible, it requires biomaterial of all family members (biological parents of the child and all other children of this parental couple). Prenatal DNA diagnostics is in rare instances shown.
Treatment and forecast of an ataxy
Treatment of an ataxy is carried out by the neurologist. It mainly symptomatic also has to include: the all-strengthening therapy (vitamins of group B, ATP, antikholinesterazny means); a special complex of gymnastic exercises of LFK directed to strengthening of muscles and reduction a diskoordination. At Fridreykh's ataxy, considering pathogenesis of a disease, in treatment the medicines supporting functions of mitochondrions (amber acid, Riboflavinum, coenzyme Q10, vitamin E) can play a large role.
Correction of an immunodeficiency is necessary for treatment of an ataxy-teleangiektazii, except the above-stated algorithms. For this purpose appoint a course of treatment immunoglobulin. Radiation therapy in such cases is contraindicated, besides it is necessary to avoid the excessive x-ray radiation and long stay in the sun.
The forecast of genomic hereditary diseases is unfavourable. Slow progressing of psychological violations is noted. Working capacity in the most part of cases is reduced. However, thanks to symptomatic treatment and prevention of repeated infectious diseases, injuries and intoxications patients have an opportunity to live up to old age. With the preventive purpose it is necessary to avoid the birth of children in families where there are patients with a hereditary ataxy. Besides, it is recommended to exclude a possibility of any related marriages.