Congenital myopathy: clinical – neurological, neurophysiological and biochemical characteristics

Омонова Умида Тулкиновна, Зайнутдинова Дилором Рустамовна, Шарипова Мадина Каримовна, Шагиясова Жамила Акиловна

Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research · 2024-yil

Annotatsiya

Clinical, laboratory and neurophysiological signs of congenital myopathies were analyzed. 56 patients aged 2 to 15 years who were under observation in the department of medical and genetic counseling of the Republican Center for Mother and Child Screening (Tashkent) from 2018 to 2023 were prospectively analyzed. When studying the pedigrees of patients with CM, in 39 cases the marriage was related, which amounted to 70%. It was found that in 38% of cases (27 families) there were patients with a similar disease in the families.1 Having analyzed the data of clinical and biochemical examinations at the time of initial treatment, a direct correlation was identified only between age and the degree of damage to the muscular system, at the same time the level of CPK in blood serum reflected the level of motor disorders only in the terminal stages of the disease and was not a marker of the effectiveness of the treatment measures. With needle EMG, the primary muscle type of changes is revealed, while the spontaneous activity of muscle fibers is either absent or insignificant.

Maqola ma’lumotlari
MualliflarОмонова Умида Тулкиновна, Зайнутдинова Дилором Рустамовна, Шарипова Мадина Каримовна, Шагиясова Жамила Акиловна
JurnalЖурнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research
NashriyotБухоро давлат тиббиёт институти
Nashr sanasi2024-01-04
Jild4
Son5
TilIngliz
Ilmiy sohaTibbiyot
Indeksga qo‘shilgan2026-08-26

Kalit so‘zlar

нервно-мышечные болезни, врожденные миопатии, клиника, диагностика, электромиография, neuromuscular diseases, congenital myopathies, clinical picture, diagnosis, electromyography, нерв мушак касаллиги, туғма миопатия, клиника, диагностика, электромиография

Ilmiy soha

Iqtibos keltirish

APAОмонова Умида Тулкиновна, Зайнутдинова Дилором Рустамовна, Шарипова Мадина Каримовна, & Шагиясова Жамила Акиловна (2024). CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS. Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research, 4(5). https://tadqiqot.uz/index.php/neurology/article/view/8591
GOST (OAK)Омонова Умида Тулкиновна va b. CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS // Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research. – 2024. – T. 4, № 5.
MLAОмонова Умида Тулкиновна, Зайнутдинова Дилором Рустамовна, Шарипова Мадина Каримовна, and Шагиясова Жамила Акиловна. “CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS.” Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research, 4(5), 2024. https://tadqiqot.uz/index.php/neurology/article/view/8591
ChicagoОмонова Умида Тулкиновна, Зайнутдинова Дилором Рустамовна, Шарипова Мадина Каримовна, and Шагиясова Жамила Акиловна. “CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS.” Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research, 4(5) (2024). https://tadqiqot.uz/index.php/neurology/article/view/8591
HarvardОмонова Умида Тулкиновна, Зайнутдинова Дилором Рустамовна, Шарипова Мадина Каримовна, and Шагиясова Жамила Акиловна (2024) ‘CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS’, Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research, 4(5). https://tadqiqot.uz/index.php/neurology/article/view/8591
BibTeX
@article{article2024,
  title = {CONGENITAL MYOPATHY: CLINICAL – NEUROLOGICAL, NEUROPHYSIOLOGICAL AND BIOCHEMICAL CHARACTERISTICS},
  author = {Омонова Умида Тулкиновна and Зайнутдинова Дилором Рустамовна and Шарипова Мадина Каримовна and Шагиясова Жамила Акиловна},
  journal = {Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research},
  year = {2024},
  volume = {4},
  number = {5},
  url = {https://tadqiqot.uz/index.php/neurology/article/view/8591}
}

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