Spinocerebellar ataxia

Hereditary spinocerebellar ataxia is a clinically and genetically heterogeneous group of lesions of the central nervous system structures, characterized by progressive deterioration of balance and coordination of movements in combination with a variety of other neurological manifestations.

The incidence of spinal carbellar ataxia in the population varies between 1-23 cases per 100 000 population. Diseases have uneven geographical and ethnic distribution. In Russia, as well as in Italy, the prevailing form is type 1 spinocerebellar ataxia( 41% of families), in India - spine carbellar ataxia of the 2nd type. A high incidence of spinal carbellar ataxia of type 3 was noted in populations of Germany( 42%), Japan( Honshu Island - 33.7%), USA( 23%).

This group of diseases refers to cerebellar lesions, which are transmitted by an autosomal dominant type of inheritance. Mutations in genes lead to the formation of abnormal protein products, which causes damage and death of the cells of the cerebellum, spinal cord, cerebral cortex.

For the first time the disease manifests itself at the age of 20-60 years. Spinocerebellar ataxia is characterized by a wide variety of features that can be grouped together in different ways in each case. The initial symptoms are imperceptibly appearing awkwardness, instability in fast walking and running, gradually increasing and leading to the development of a typical staggering gait. Subsequently, trembling of limbs is attached when performing any movements and disrupting the coordination of movements in the hands. In addition, there are changes in handwriting, which becomes large and uneven, and speech. Characteristic are also oculomotor disorders in the form of jerky, jerky( saccade) movements of the eyeballs while moving the gaze. Often there are violations of swallowing and pronunciation of sounds, disorders of stool and urination, paralysis of limbs, pathological reflexes appear, while normal reflexes decrease or disappear altogether. You can see the progressive loss of muscle mass, which is accompanied by the weakening of these muscles, a brief spontaneous contraction of several muscle fibers, which is manifested by subcutaneous flutter. Quite often there are various involuntary movements of the head and limbs, dementia develops. There are fewer signs of Parkinson's disease. Changes can be formed on the part of the organ of vision, which is manifested by a decrease or total loss of vision. With computer and magnetic resonance imaging of the brain, the size of the cerebellum decreases. By steadily progressing, the disease leads to profound disability. The cause of death in most cases are infectious complications.

There are certain differences between different forms of autosomal dominant cerebellar ataxia, but their clear delineation is a difficult task and possible only after carrying out all the necessary studies.

The diagnosis of spinocerebellar ataxia is reliable if there are the following symptoms:

1) autosomal dominant type of inheritance;

2) the appearance of the first signs of the disease in the 2-6th decade of life;

3) impaired coordination of movements, speech impairment, oculomotor disorders in combination with other characteristic disorders described above;

4) atrophy of the cerebellum, which is revealed during computer and magnetic resonance imaging of the brain;

5) progressive course of the disease;

6) positive results in DNA testing.

Treatment. There is no effective treatment to date. Apply the drug piladox, choline chloride in combination with other medicines. It is expedient to use vitamins of group B, vitamin E, essential, nootropic drugs( nootropil, piracetam).When peripheral nerves and muscles are affected, phosphaden( adenyl), riboxin, retabolil is used. These drugs help improve metabolism, which is also necessary in the treatment of this disease. In the presence of muscle spasms, baclofen or sirdalude has a good effect. In addition, prescribe massage, exercise therapy, muscle electrical stimulation. In case of involuntary movements, clonazepam, cyclodol( akinetone), tiaprid, haloperidol are prescribed. With ineffectiveness of drug treatment of involuntary movements, surgical treatment can be performed. However, such an operation is extremely difficult, since it affects the structure of the brain. In this regard, such treatment is possible only in highly specialized and equipped with the latest technology medical centers.