Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research 5-jild 1-son (2024)
MYOCLONIC DYSTONIA SYNDROME IN CHILDREN
Гулямова Дурдона Насриддиновна
Annotatsiya
Myoclonic dystonia is a genetically heterogeneous condition that leads to impaired muscle function (myoclonic hyperkinesis), as well as dystonia of the musculature of the upper body – neck, upper limb girdle. The symptoms of this condition are sharp muscle twitches (arms, neck, occasionally legs), especially when performing subtle movements. Then dystonia joins, which can manifest itself with a torticollis and an unusual posture of the patient. The diagnosis of myoclonic dystonia is based on the data of the patient's current status and molecular genetic analysis.
дистония; миоклонус; мышечные подергивания; мутация ε-саркогликанаdystonia; myoclonus; muscle twitching; e-sarcoglycan mutationдистония; миоклонус; мушакларнинг тортишиши; ε-саркогликан мутацияси
Metadata manbasi: jurnal OAI-PMH arxivi · Sindex toʻliq matnni saqlamaydi, manbaga havola beradi.