The neurological symptoms clinical diagnostics role in patients with genetic diseases

  • M. A. Trishchynskaya Shupyk National Medical Academy of postgraduate education Kyiv, Ukraine
  • V. A. Svystilnyk Shupyk National Medical Academy of postgraduate education Kyiv, Ukraine
Keywords: neurodegenerative diseases diagnostics, glucose transporter type I deficiency syndrome


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.


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How to Cite
Trishchynskaya, M. A., & Svystilnyk, V. A. (2019). The neurological symptoms clinical diagnostics role in patients with genetic diseases. Modern Medical Technology, (2(41), 69-73.
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