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Pierre Marie Hereditary Cerebellar Ataxia

Pierre Marie's cerebellar ataxia is a hereditary degenerative disease with a primary lesion of the cerebellum and its pathways. The type of inheritance is autosomal dominant. There is a disease at the age of 20 years and older.

Pathomorphology. A degenerative lesion of the cells of the cortex and nuclei of the cerebellum, spinocerebellar pathways in the lateral cords of the spinal cord, in the nuclei of the bridge and medulla is detected.

Clinical manifestations. The disease is manifested by impaired function of the cerebellum and its connections. Ataxia is observed during coordination tests, gait disturbance, chanted speech, intentional trembling, nystagmus. Cerebellar symptoms are combined with moderate or severe signs of pyramidal insufficiency (increased tendon and periosteal reflexes, foot clonuses), and sometimes with oculomotor disturbances (strabismus, ptosis, convergence failure).
A characteristic feature is, to varying degrees, a pronounced decrease in intelligence.

Diagnosis and differential diagnosis. The greatest difficulties arise with the differentiation of hereditary cerebellar ataxia of Pierre Marie and ataxia of Friedreich. It is necessary to take into account the type of inheritance of the disease, the age at which the first symptoms develop, the nature of the change in tendon reflexes (with Friedreich ataxia they are reduced), the presence of visual and oculomotor disorders with Pierre Marie ataxia, and deformation of the feet and skeleton. Multiple sclerosis, in contrast to Pierre Marie’s familial ataxia, is characterized by a remitting course, greater severity of lower spastic paraparesis, and dysfunction of the pelvic organs.

Treatment. Symptomatic
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Pierre Marie Hereditary Cerebellar Ataxia

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