Congenital cerebellar ataxia

December 6, 2011

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Cerebellum   (in Latin. cerebellum ) In humans is located inside of the skull in the region of the nape. Typically, cerebellum has a volume average 162 cu. cm and its weight varies between 135-169 In the two hemispheres of the cerebellum, which is located between the oldest part - worm . Furthermore, using three pairs of legs it is connected with the medulla oblongata, the bridge and midbrain. It is composed of white and gray matter of the last shaped crust cerebellar nuclei and paired in his body. The worm is responsible for the balance and stability of the body, and the hemisphere - for precise movements. To maintain the balance of the body, in the cerebellum receives information from the proprioceptors of various body parts, and other organizations involved in monitoring the situation of the human body ( inferior olive . vestibular nuclei ).

When a voltage of muscle groups when performing purposeful actions, maintaining the position of the body in balance, the cerebellum fall nerve impulses . They extend from the spinal cord and to the part of the cortex, which is responsible for the movement. Plays a complex system of contacts, the flow of nerve impulses fed to the cerebellum, which, in turn, holds and outputs its analysis "response", which is already flagged a person's consciousness, i.e. the cerebral cortex and the spinal cord. Thanks to the coordinated work of all of the work the muscles of the body becomes clear and beautiful. Lesions of the cerebellum and the worm appear in Abuse statics Ie a person can not consistently maintain a stable center of gravity of the body and balance.

The term " ataxia "Concerning the disease of the nervous system used since the time of Hippocrates, and he meant" confusion "and" confusion ", but today under ataxia understand   dystaxia . Ataxia disorder manifested in gait and limb movements that occur in the jitter in activities promahivanii and disequilibrium in the position of the body while standing and sitting.

Ataxia are cerebellar . sensitive . vestibular   and frontal . With the defeat of the cerebellum and its pathways occurs cerebellar ataxia. This disease is manifested symptoms of ataxia when standing or walking. Gait patient cerebellar ataxia gait resembles a drunk, he is insecure, he straddles his throws from side to side, usually in the direction of the location of the pathological focus.

Tremor   intentsionnogo in the extremities, a person can not quickly change the position of the body. Also often can be observed asynergy Ie inconsistency movements, for example when the body is tilted back legs do not bend at the knee joint, so it can fall. Very often, when there is cerebellar ataxia "chopped" speech, syllable by syllable, there may be changes in handwriting, sometimes - hypomyotonia .

If the lesion extends to the cerebellar hemispheres, can develop limb ataxia on the side in which the hemisphere if struck by the worm - that the body develops ataxia.

If the patient's cerebellar ataxia put in Romberg posture   (that is, to stand firmly by sliding legs, arms close to the body and raising his head), this posture is unstable, the human body can be shaken, sometimes pulls some side, until the fall. When struck by the worm - that the patient falls backwards, and if one of the hemispheres - in the direction of the pathological focus.

In the normal state, if there is a risk of falling to the side, the foot located on the side of incidence moves in the same direction, and the other is - off from the floor, i.e. there is a "jump response." Cerebellar ataxia gives these reactions, if slightly pushed aside, it easily falls ( pushing a symptom ).

At the young age of the human nervous system it has a fairly high potential neuroplasticity Ie property of the nervous system quickly rebuilt under the influence of external or internal changes. For the development of neuroplasticity requires a series of repetitions of the same effect, whereby the central nervous system occur biochemical and electrophysiological restructuring. As a result, between the cells of the CNS to form new or old contacts become active. And Ataxia, because of the nerve tissue can not be formed thin skills and harmonious movements.

It should be noted that the ataxia occur in about 1 to 23 per 100 thousand. (Prevalence varies by region). Actually the development of ataxias usually is genetic, congenital cerebellar ataxia symptoms appear during childhood.

According to current classifications, cerebellar ataxia are:

• Congenital cerebellar ataxia   (nonprogressive when hemispheres or vermis hypoplasia or absent).
• Autosomal recessive ataxia Arising early ( Friedreich's ataxia ). Friedreich's ataxia was first described in 1861, and is typically symptoms in children or young people up to 25 years. The disease is manifested in the symptoms of ataxia, static, uncertain gait, decreased muscle tone. The resulting sensitivity disorder leads to a reduction of tendon reflexes. Friedreich's ataxia is characterized by abnormal development of the skeleton, the appearance of "foot Friedreich's ataxia," ie, shortening of the foot, its high arch. The disease is progressing rather slowly, but the results in the disability of patients, and chained to the bed.
• Recessive Ataxia Associated with chromosome X ( X-chromosomal ataxia ). This type of ataxia is rare, mainly in males in the form of progressive cerebellar impairment.
• Disease Betty , Inherited in an autosomal recessive manner, it is a congenital disease. It is characterized by congenital cerebellar ataxia, which is transmitted to the first years of life as a violation of statics, coordination and sight. Keep your head such children start at 2-3 years, and walking and talking - even later. With age, ill adapted to his condition.
• Autosomal dominant ataxia   late age (also called spinocerebellar ataxia). This includes Pierre Marie disease . This kind of hereditary cerebellar ataxia manifests itself in the age of 25-45 years and affects the cells of the cortex and cerebellum, spinocerebellar way in the spinal cord and brain nuclei of the bridge. Its symptoms are ataxia and pyramidal insufficiency, intention tremor, tendinous hyperreflexia, "chopped" speech. Sometimes - strabismus , Ptosis, decreased vision. The size of the cerebellum is gradually reduced, often a decrease in intelligence and depression. By the way, most of the authors believe Pierre Marie cerebellar ataxia syndrome, which included olivopontotserebellyarnaya (Dejerine-Thomas) and olivotserebellyarnaya atrophy (type Holmes), cerebellar atrophy Marie Foy Alajouanine and olivorubrotserebellyarnaya atrophy Lhermitte.

Symptoms of congenital cerebellar ataxia

Common symptoms for all types of ataxias are ataxic symptoms . It is a violation of coordinated work of all the muscles to achieve the objective act of movement. Symptoms of congenital cerebellar ataxia include dysmetria   - Disproportionate efforts to implement purposeful movement. There dyssynergia when disturbed coordination of individual muscles, intention tremor, rhythmic deviation from the correct path of purposeful movement, which increases when approaching the target.

Common signs of instability in the upright position, nystagmus (rapid rhythmic movements of the eyeball), and jerky speech, emphasis on each syllable. Symptomatic cerebellar ataxia in children is that the child later begins to sit and walk, and his gait is uncertain, the child like "shakes."

Symptoms of congenital cerebellar ataxia appear delayed motor functions of the child, he later begins to sit, walk, takes the backlog of mental development, delayed speech. Usually 10 years is compensated brain functions.

To confirm the diagnosis, it is necessary to hold CT   and MRI , and DNA studies   to identify genes which lead to the development of certain forms of pathologies.

Treatment of congenital cerebellar ataxia

Treatment of the disease involves performing activities for motor and social rehabilitation of patients, so that the patient has adapted to his defect. Physical therapy sessions are recommended, walk training, training with a speech therapist, training on stabilometric platform .

Sometimes, depending on the type of ataxia, it may take medication congenital cerebellar ataxia with muscle relaxants, nootropics , Anticonvulsant drugs action. For the treatment of diseases of Pierre Marie drugs used to reduce muscle tone ( B vitamins . baclofen . meliktin . kondelfin ).