Pierre Marie cerebellar ataxia is a hereditary degenerative condition with a predominant lesion of the cerebellum (during histopathological examination, atrophy of cells of the cortex, nuclei of the cerebellum and pathways: spinocerebellar and pyramidal, is determined). The condition occurs in several generations in a row. It has an autosomal dominant type of inheritance. Disease incidence is 0.5 for 100,000 people. The disease manifests at a young or middle age (20–40 years), the course is slowly progressive.
Clinical differentiation of spinocerebellar ataxias is practically impossible, nosological affiliation is established, mainly, during the pathomorphological examination of all structures of the brain and spinal cord. Therefore, most authors consider Pierre Marie cerebellar atrophy as a separate nosological form. This syndrome with a similar clinical picture includes: olivopontocerebellar inherited atrophy (Menzel type), sporadic (Dejerine Thomas) oliocerebellar atrophy (Holmes type), late cortical cerebellar atrophy of Marie-Foix-Alajuanin, olivo-rubro-cerebellar atrophy of Lejonne-Lhermitte. There are also about 42 genetic types of autosomal dominant spinocerebellar ataxias.
Clinical manifestations of cerebellar ataxia are: imbalance in the Romberg position, gait disturbance (gait with legs wide apart, swaying from side to side with significant difficulties when turning), speech impairment like chanted speech (monotonous, intermittent), impaired accuracy of fast movements (dysmetria), decreased muscle tone (hypotonia), increased tendon reflexes, foot clonus, the presence of pyramidal signs, kinetic tremor, which is visible when approaching the target, nystagmus, oculomotor disorders (ptosis, heterotropia, convergence abnormality), tremor of trunk and limbs (titubation) in various degrees, cognitive decline.
Diagnosis of the disease primarily consists of excluding other diseases: hyperthyreosis, tumors of the brain and spinal cord, paraneoplastic conditions, infections (neurosyphilis, Lyme Borreliosis), deficiency of vitamins B, A, E, gluten hypersensitivity, and the prescription of appropriate laboratory and instrumental examination methods, namely:
The data of medical history, clinical picture and neurological status, since paraclinical methods of investigation are not very informative, are rather aimed at excluding other diseases.
The treatment of spinocerebellar ataxia is symptomatic, aimed at reducing tremor, as well as neurorehabilitation, wearing weighting bracelets that can reduce tremor.
Author of the article: Nataliya Maslyanchuk, M.D.
Date of publication: 23.10.2019
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