The neurological symptoms clinical diagnostics role in patients with genetic diseases

Abstract

The purpose of the study. The aim of the publication was to make analysis neurological symptoms peculiarities in patients with the glucose transporter type I deficiency syndrome and to make differential diagnostics with other diseases. There are main clinical symptoms in the patients with glucose transporter type I deficiency syndrome. They include attacks of seizures, movement disorders: paresis, plegia, paroxysmal induced dyskinesias, ballismus, tremor, athetosis, dystonia, ataxia. The glucose transporter type I deficiency syndrome clinical characteristics have been added by the delays of the movement, cognitive development, behavior disorders, head ache. Hardness of the clinical symptoms may fluctuate during a day and depends from the period of eating. The plan for differentiation diagnostics and identification of the neurodegenerative diseases was presented in the article.

Keywords

• neurodegenerative diseases diagnostics
• glucose transporter type i deficiency syndrome