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Fridreykh's ataxy – a hereditary disease of a nervous system, autosomal and recessive mode of inheritance. The disease is characterized by a syndrome of defeat of back and lateral cords of a spinal cord, is more often in lumbosacral segments, death of cells of columns of Clark and dorsal spinotserebellyarny paths. At late stages the degeneration of kernels of cranial nerves, a gear kernel, a cerebellum leg is characteristic, cells of big parencephalons suffer slightly less often.
Reasons of development of an ataxy of Fridreykh
Development of a disease is connected with an imbalance of intracellular iron, its high concentration in mitochondrions causes increase in the free radicals destroying a cell. The imbalance arises at insufficiency or distortion of structure of the protein synthesized in cytoplasm – a frataksina. This protein is responsible for iron transport from mitochondrions at which accumulation over norm there are decrease in tsitozny iron.
These are the main reasons of development of an ataxy of Fridreykh as a result of which the genes coding a ferroksidaza and a permeaza which, as well as frataksin are responsible for iron transport are activated.
It leads to a bigger accumulation it in mitochondrions. Heredity is caused by a so-called gene of an illness of Fridreykh allegedly found in tsentnomerny area of the 9th chromosome in a locus 9ql3 — q21. There can be several mutations of one gene, than, and different forms of a disease are caused. Fridreykh's ataxy occupies a half of cases of emergence of an ataxy. The first signs are shown aged till 20 flyings, much up to 30 more rare. Arises equally often both at women and at men, only representatives of negroid race are not exposed to this illness
The disease affects neurons of the central and peripheral nervous system, but the medicine has no explanation, the reason why in a nervous system only conduction paths of a spinal cord are damaged. In other systems not less important cells of bodies are exposed to a disease, these are myocardium cells, β — cells of islands of Langergants in a pancreas, cells of a retina and bone tissues.
Course of a disease constantly progressing. If there is no adequate treatment of an ataxy of Fridreykh, duration of an illness does not exceed 20 years. And having begun to be shown by awkwardness and uncertainty when walking, a dysarthtia, after a while completely deprives of the person normally to coordinate the movements and to move independently. The disease terminates letalno, in rare instances in the absence of such manifestations as a diabetes mellitus and heart troubles patients live till 70-80.
Symptoms of an ataxy of Fridreykh
The first symptoms of a disease consist in oppression of Achilles and knee jerks. These symptoms appear several years prior to emergence of others, also to is vulnerable to manifestations, the rheumatic carditis which is often treated as an individual disease belongs. So it is not considered that it is symptoms of an ataxy of Fridreykh before emergence of neurologic disturbances. There are gradual skeletal deformations, such as scoliosis, deformation by a finger of hands and legs, "Fridreykh's stop" at which abnormal extension of fingers in the main phalanxes is observed and foot has the high concave arch.
Fridreykh's ataxy in the developed form is characterized by neurologic disturbances and a total areflexia, typical for an ataxy. The hypomyotonia, Babinsky's symptom are broken joint and muscular and vibration sensitivity. Gradually develops a sensitive and cerebellar ataxy, an atrophy and weakness of muscles of legs.
In 90% of patients abnerval manifestations, it damages of heart, endocrine frustration, a cataract are shown. Develops progressing a cardiomyopathy, it can be both hypertrophic, and dilatatsionny. In this case such symptoms of an ataxy of Fridreykh as pains in heart, heartbeat, systolic noise, an asthma are observed. Endocrine diseases, such as a diabetes mellitus, a hypogonadism, infantility, dysfunction of ovaries are characteristic.
The late stage of an ataxy is characterized by an amitrofiya and disorder of deep sensitivity, disappearance of tendon and nadkostny jerks. What extends to upper extremities. There is a deep disintegration of motor functions because of what the person loses ability to go and service himself. The kyphoscoliosis with forming of a hump, deformation of hands develops. From abnerval manifestations can, the nystagmus, decrease in hearing, an atrophy of optic nerves, dysfunction pelvic by body, dementia is observed. The progressing cardiomyopathy at late stages of a disease is a cause of death at a half of patients, most often because of disturbances in wire system of heart. Pulmonary insufficiency and infectious complications also belong to proximate causes of death.
Diagnosis of an ataxy of Fridreykh
Computer tomography of a brain which remains the main diagnosis of an ataxy at this disease ineffective, a number of changes it is possible to find only at late stages. It is connected with spinal localization of changes therefore it is possible to find only weak degree of an atrophy of a cerebellum at an early stage and an atrophy of hemispheres, expansion of trunk tanks, lateral ventricles and a subarachnoid space of both hemispheres at later stages. Early diagnosis of an ataxy of Fridreykh is made by means of the MR-tomography which gives the chance to find an atrophy of a spinal cord, and at the developed stage, and is moderated the expressed atrophy of the bridge, a cerebellum and a myelencephalon. At an initial stage electrophysiologic research is surely conducted, at such researches weight of defeat of sensitivity of nerves of extremities is established.
For full diagnosis carry out loading tests of tolerance to glucose, a X-ray analysis of a backbone. First of all diagnosis is directed to what precisely, to establish the diagnosis and to differentiate a disease from others with similar symptomatology. For example symptoms of an ataxy of Fridreykh can be same as well as a hereditary ataxy at deficit of vitamin E, a syndrome of Bassena-Korntsveyga, hereditary exchange diseases, such as Krabbe's illness and an illness of Nimanna-Pika. The similar symptomatology can be also at multiple sclerosis, except for a tendinous areflexia, a hypomyotonia and abnerval manifestations. Existence of remissions and change of density of substance of a brain is not characteristic of Fridreykh's ataxy that is observed at diagnosis of multiple sclerosis.
For differentiation of a disease also a number of additional laboratory researches is appointed. DNA testing and medicogenetic consultation, research of a blood lipid profile, the analysis of a blood smear for existence of deficit of vitamin E and acanthocytes is held. Treatment of an ataxy of Fridreykh does not lead to an absolute recovery, but timely prevention gives the chance to avoid development of many symptoms and complications. Diagnosis of an ataxy of Fridreykh by means of DNA of testing has to be appointed not only to the patient, and and relatives for determination of heredity of a disease, it is necessary for the purpose of prevention, and purpose of preventive therapy.
Treatment of an ataxy of Fridreykh
img class="alignleft size-full wp-image-1817" title="Лечение атаксии" src="//medicalmed.us/img/ataksiya2.png" tppabs="medicalmed.us/wp-content/uploads/2011/06/ataksiya2.png" alt="Лечение атаксии" width="200" height="190" />For delay of progressing of a disease the drugs of a mitochondrial row, antioxidants and other drugs reducing accumulation of iron in mitochondrions are appointed.
Such antioxidants as vitamins A and E, and also synthetic substitute of Q 10 coenzyme – idebenon which slows down neyrodegenrativny process and development of a hypertrophic cardiomyopathy are appointed. Also 5 hydroxypropane which gives, quite good results are appointed, but it demands further researches.
In general a symptomatic treatment, it has to eliminate such symptoms of an ataxy of Fridreykh as a diabetes mellitus, diseases of cardiovascular system. Also surgical correction of feet and administration of botulotoxin is carried out to spastichny muscles.
Physical therapy and physiotherapy exercises – procedures without which treatment of an ataxy of Fridreykh most often is ineffective. Regular jobs give the chance to keep a body in a tone and to eliminate painful feelings. Patients need social adaptation as much should live in a condition of full helplessness. Loss of sight, an opportunity to move independently, the broken coordination creates psychological disturbances which have to be eliminated by means of specialists and support of relatives.