Genetic diseases



ataxia photo Ataxia (inkoordinatsiya) - violation of coherence (coordination) of various muscles, which manifests disorder purposeful movements and static functions.Ataxia is a fairly frequent violation of the motor, and the power of the limbs preserved fully or fairly slightly reduced.Movements become clumsy, inaccurate, there is a disorder of consistency and continuity, walking and standing balance is disturbed.

To adequately fulfill absolutely any motion requires a joint coordinated work of a large number of muscle groups.The movement provides a mechanism regulating the selection of appropriate muscle groups, the duration and strength of the individual muscle contractions and the sequence of their inclusion directly in the motor act itself.In the absence of antagonist muscle coordination and synergists changes the quality of movement commensurate with the loss and accuracy.Movements become intermittent, losing fluency, are clumsy and excessive.The transition between movements (eg flexion-extens

ion) is much more difficult.This discoordination movement is called locomotor (dynamic) ataxia

Clinically following types of ataxias :

→ Cork (frontal) ataxia - affected the cortex of the frontal or occipital-temporal region

→ Vestibular ataxia - affected vestibular apparatus

→ Cerebellarataxia - the cerebellum is affected

→ Zadnestolbovaya (sensitivity) ataxia - impaired conductivity glubokomyshechnoy sensitivity

frontal ataxia

This violation occurs when lesions of the frontal lobes in the damage to the bridge-fronto-cerebellar connections.Most strongly manifested disease in the contralateral limb of the lesions (foot), there are specific imbalance, sometimes reaching extent astasia - Abaza, a decline of intellect, memory and criticism.Ataxia may develop as a consequence of the following neurological disorders: abscesses and brain tumors, funicular myelosis, multiple sclerosis, polyneuropathy, idiopathic and hereditary cerebellar ataxia, brain injury, stroke and so on. In addition, this genetic disorder can develop in patients with chronic or acute alcohol intoxication, deficiency of vitamin E, poisoning solvents and salts of heavy metals, hypothyroidism e , when taking certain medications (phenytoin, carbamazepine, and others.)

Vestibular ataxia

This disorder develops with disorders of the peripheral vestibular apparatus and showsimpaired balance in sitting, standing and walking.Vestibular ataxia manifested vertigo (spinning sensation surrounding objects) that are amplified when moving head;In some cases, there is nausea and vomiting, muscle-joint feeling saved in the limbs no violations

Cerebellar ataxia

As the name implies, the disorder occurs in lesions of the cerebellum, as well as its leading ways and manifested ataxia on standing (expressedin widely spaced feet) and walking dysmetria when performing any precise movements disdiadohokinezom (a person can not quickly change to another one movement), tremor of the extremities, asynergia (uncoordinated movements).When cerebellar form of the disease is often observed changes in handwriting (makrografiya, roughness), it syllable by syllable ("chopped it"), hypotonia, nystagmus.The defeat of the cerebellar vermis leading to ataxia of the trunk, the defeat of the cerebellar hemispheres - to ataxia homolateral limbs

sensory ataxia

This condition occurs when the defeat of conductors or receptors musculoarticular sensitivity to any site in the dorsal root, the brainstem, the peripheral nerves,thalamus and posterior columns of the spinal cord.Sensory ataxia manifests impaired gait, balance, the affected limb (if performing precise movements man misses), reduced muscle-joint senses;when closing the eye level is greatly enhanced sensory ataxia (sample Romberg).In the case of lesions of the posterior columns of the spinal cord ataxia exhibit characteristic muscular hyporeflexia and hypotension, when walking sick disproportionately bending and extending the legs, with enough swiping the floor heel ("stamp" gait)

Friedreich's ataxia

This type of illness develops a rate of about 5 people per 100,000 population.Most often the disease develops in 10 - 15 years (25 years later).Due to the destruction of the spinal cord and cerebellum characteristic sensitivity and progressive cerebellar ataxia.Often there are skeletal abnormalities (high arch, kyphoscoliosis), lungs, central paresis of the limbs, damage to the heart muscle.For Friedreich's ataxia degree of progression varies, but most patients die before they reach up to thirty years

Hereditary idiopathic cerebellar ataxia

This type of ataxia develops in people older than 25 years, and its genesis is unclear.The first type of the disease is manifested by progressive cerebellar ataxia.The second type is characterized by a combination of ataxia with central paresis, symptoms of autonomic nervous system lesions (orthostatic hypotension), and basal ganglia

Congenital ataxia

This condition is associated with aplasia of the cerebellum, and often combined with other congenital abnormalities.The main syndrome is a non-progressive cerebellar ataxia.Often when there is a congenital form of the good development of independent walking, motor skills, learning ability and self-service

Diagnostics ataxia often causes difficulties and is based on the presence of typical clinical manifestations.Diagnosis is confirmed by the results of immunological studies of cerebrospinal fluid and blood.In addition, to confirm the diagnosis by conducting CT and MRI of the head.In the case of suspected hereditary shown conducting genetic testing.

rapidly increasing symptoms of the disease is most often caused by an abscess of the brain tumor, chronic alcohol intoxication or multiple sclerosis.Acute development of ataxia in most cases caused by acute stroke in the cerebellum (heart attack, stroke and so on.).Episodic ataxia most often develops as a result of taking certain medications (phenytoin, carbamazepine), multiple sclerosis, hereditary episodic ataxia.Slowly progressive ataxia develops in idiopathic and hereditary degenerative forms of the disease, and multiple sclerosis.

Treatment Ataxia mostly symptomatic therapy and is based on the underlying disease.Idiopathic degenerative and hereditary forms of treatment are not subject.In addition, considerable importance in the treatment given to the social rehabilitation of the patient and the complex of medical gymnastics.

forecast maloblagopriyaten ataxia.The patient has been a gradual progression a variety of neuropsychiatric disorders.In most cases markedly reduced work capacity.And even despite this, in the case of preventing intoxication, injury, repeated infectious diseases and timely implementation of adequate symptomatic treatment, patients can successfully live to old age.

Prevention ataxia is to eliminate any possibility of inbreeding.In addition, families with hereditary ataxia diagnosed patients is not recommended to have children.

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