Spinocerebellar ataxia: signs, methods of diagnosis and treatment

Spinocerebellar ataxia is a neurodegenerative pathology that unites various types of autosomal dominant diseases, each of which is treated as a separate nosological unit.

This group unites the general clinical picture, expressed in coordination disorders that occurs in young or middle age, is characterized by rapid progression, and is accompanied by other neurological disorders. The pronounced polymorphism and a multitude of atypically occurring forms of such diseases did not allow earlier to create an objective classification, but with the discovery of DNA-diagnostics this became possible, since all such patients had different kinds of gene mutations.

However, none of the currently existing classifications are satisfactory to the end of practicing neurologists. This is due to the lack of a clear understanding of the biochemical processes underlying the development of the disease.

As spinocerebellar ataxia is manifested

Mutations of genes in patients with this kind of diseases lead to a disruption of the structure and function of the nervous tissue, and then to its withering away. First of all, it occurs in some parts of the cerebellum, in the form of degenerative changes in the worm and demyelination of the cortex, as well as in the change in the structure of transverse fibers and some other parts of the brain bridge, as well as areas of the cortex.

The initial symptoms of spinocerebellar ataxia are the appearance of some awkwardness that manifests itself in fast walking or running and fatigue, further progression of pathological changes leads to staggering gait and falls when walking. In the future there is an increasing tremor of hands, difficulties in performing precise movements. The handwriting of such a patient also changes, it becomes uneven and sweeping. Speech functions are also subject to change, there is difficulty in pronunciation of sounds.

Normal reflexes are greatly reduced or leveled, but pathological ones appear, there are problems with urination and upset of the stool. The limbs are paralyzed, muscles become hypotensive and atrophy, small groups of muscle fibers can spontaneously contract and this is visually noted as the appearance of subcutaneous flutter.

Oculomotor disorders are characteristic. In patients, the body's immune forces decrease, and cardiomyopathies often occur. Violated musculo-articular and vibration sensitivity, especially in the lower limbs, and then the hands.

Gradually reduced intellectual abilities, often there are involuntary movements of the head or hands. Less likely to develop parkinsonism. Vision is deteriorating or completely lost. The death of the patient in most cases occurs due to the attachment of infectious complications, general exhaustion, myocarditis, pulmonary or heart failure.

Most often such a group of diseases develops steadily, but slowly, gradually progressing. In total, about 20 years pass from the beginning of the first symptoms to the complete disability of the patient. But sometimes everything happens much faster. Sometimes there is a short-term stabilization.

It should be noted that in one family, spinocerebellar ataxia can manifest itself in different ways. Along with a pronounced clinical picture, one relative has a rather worn out course of the pathological process in another.

When conducting studies on a computer tomograph or MRI with spinal carbellar ataxia, the cerebellum decreases in size.

The most common of these disease groups is Friedreich's disease, which was first described as early as 1861.With the severity of the above symptoms, a characteristic feature of this disorder is a disorder in the structure of the bone tissue. There are deformations of the foot and spine, which progress along with neurologic abnormalities.

Spinocerebral ataxia is confirmed by:

• DNA diagnosis( with confirmation of hereditary cause by autosomal dominant type);
• A history of the disease. The emergence of pathology in individuals from 20 to 60 years.
• Manifestations of typical symptoms with impaired coordination, speech and other types of neurological disorders.
• Atrophic changes of the cerebellum with confirmation of this fact using objective research methods.
• Steady progression of the disease.
• Presence of similar pathologies in the study of family history.

Is it possible to cure the disease?

Treatment of spinocerebellar ataxia at the moment consists only in prolonging the life of the patient and alleviating the condition. An effective remedy for completely eliminating the disease is not yet available.

To strengthen the body and improve the functioning of the nervous system, vitamins B and E are used. Choline chloride, piladox, and agents that depress cholinesterase( an enzyme that cleaves choline) are used.

To improve the performance of the liver and intestines, the patient is assigned essential. An indispensable attribute of such therapy is nootropic drugs. Improvement of metabolism and nutrition of peripheral nerve endings is facilitated by riboxin or retabolil.

Muscle spasms are eliminated by myotropic antispasmodics( baclofen, sirdalud).The patient is also shown massage, performance of a set of special exercises, muscle electrostimulation. Involuntary movements of the extremities or the head are stopped with the help of neuroleptics, anticonvulsants or tranquilizers. A good effect is the use of physiotherapy methods of treatment.

In some clinics, there are special simulators that are related to the balance-therapy technique, and help the patient make the muscles work. The developed system of selection of trainings begins in the clinic under the control of the trainer, and you can continue it at home yourself.

At the approbation stage are preparations of neuropeptides, the purpose of which is slowing the progression of the disease.

All measures in case of a disease such as cerebral ataxia are aimed at maximum adaptation of the patient to his illness and the possibility of self-maintenance.

Like the article? Share with friends and acquaintances: