Family ataxy of Fridreykh

Description:

The family ataxy of Fridreykh is a chronic progressing disease as which main clinical display serves the ataxy caused mainly by the combined defeat of spinal systems.

Symptoms of the Family ataxy of Fridreykh:

The main symptom of a disease is the ataxy. Gait of patients was designated by Sharko as tabic - cerebellar. Patients go, widely placing legs, deviating the direct direction in both parties; gait is uncertain, clumsy. Also static ataxy is observed; Romberg's symptom is often positive. In process of development of a disease of a lack of coordination extend to hands, thorax muscles, a face. Handwriting is broken, peculiar atactic disturbances of breath can be observed, the mimicry changes. The speech becomes slow, unmodulated, tolchkoobrazny. At patients various hyperkinesias, as a rule, the accompanying active movements can be noted a dizmetriya, адиадохокинез. The muscle tone is lowered. In late stages of a disease the lower spastic paraparesis can develop.

Characteristic and precursory symptom of a disease is absence or decrease in tendon and periosteal jerks. First of all tendon jerks die away standing, then the areflexia extends also to upper extremities. With development of a spastic paraparesis tendinous reflexes - can appear again. Often, especially in late stages of a disease, the pathological Babinski's reflex, protective reflexes are caused. Decrease in deep sensitivity is characteristic. Superficial types of sensitivity usually are not broken. The krupnorazmashisty nystagmus belongs to characteristic symptoms of a disease. At otonevrologichesky inspection the bilateral vestibular areflexia or asymmetry of a reflex nystagmus in most cases comes to light. At a number of patients decrease in hearing is noted. The atrophy of an optic nerve and defeat of third cranial nerves unlike a cerebellar ataxy meet seldom. In most cases the intelligence is kept. However various degrees of an oligophrenia can be observed. Changes of EEG which are expressed in disturbance alpha and a beta rhythm, existence of irregular acute waves and groups of slow fluctuations are noted.

Fridreikh's ataxy is inherent various abnerval disturbances; the most frequent of them are changes of a skeleta.a damage of heart. The first are expressed in a kyphoscoliosis and characteristic change of a form of foot: increase in the arch and an ekstenziya of fingers, mainly the I finger in the main phalanx; there is a bent to frequent dislocations of joints.

As manifestations of damage of heart serve tachycardia, pristupoobrazny pains in heart, an asthma at a physical tension, expansion of borders of heart, systolic noise. At an electrocardiographic research disturbances of a rhythm, change atrioventricular and vnutrizheludochkovo of conductivity, deformation of an atrial tooth are found. At patients inborn heart diseases are quite often noted.

In some cases Fridreikh's ataxy is combined with diabetes which at this form of a hereditary ataxy meets more often than in the general population. From other endocrine disturbances infantility and a hypogonadism can be observed. There are single observations of a combination of an ataxy of Fridreikh to an inborn cataract.

The separate signs inherent to a disease often are found in clinically healthy relatives of patients with Fridreikh's ataxy. The most frequent of them are the nystagmus and decrease or lack of tendon jerks. In some cases certain anomalies are inherent to separate families. Most likely, they should be considered as phenotypical manifestations of a heterozygous carriage of a pathological gene. It is necessary to consider, however, that at children's age these signs can be the first displays of the developing disease.

Average age of an onset of the illness - 13 years. The disease slowly, but steadily progresses. The average duration of a disease - it is dependent on age of its beginning-16 of years. Various infections and others exogenous harm can promote development of a disease and worsen its current.

In some families Fridreikh's ataxy proceeds atypically: along with an ataxy the symptoms inherent to a cerebellar ataxy, a family spastic paraplegia, neural amyotrophy can take place. These cases are considered as intermediate forms between these diseases; it is supposed that they are called by independent genes.

Reasons of the Family ataxy of Fridreykh:

The disease is hereditary and is transmitted on autosomal recessively type. Among parents of patients the increased frequency of blood marriages is noted. Dominant inheritance is established only in single families. An opportunity is not excluded that these cases represent atypical forms of other gereditarny ataxy.
Characteristic pathoanatomical sign of an ataxy of Fridreykh is the degeneration of back and side columns of a spinal cord. Gaulle's bunches are surprised more than Burdakh's bunches. Cells of columns of Clark and the back spinal and cerebellar way beginning from them suffer. Defeat of pyramidal ways usually begins with lumbar department. The degeneration of spinal ways is usually traced to a myelencephalon.

Treatment of the Family ataxy of Fridreykh:

Symptomatic treatment. The special system of remedial gymnastics directed preferential to reduction of koordinatorny disturbances is applied. At purpose of exercises it is necessary to consider a possibility of cardial pathology. In the presence of the last appoint the corresponding therapy. Also fortifying means are shown.