Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press8910.17650/2222-8721-2012-0-3-55-66ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯClinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromesКлинико‑электромиографические критерии диагностики наследственных миотонических синдромовFedotovV. P.ФедотовВ. П.
Russian Federation
fed_val@list.ruKurbatovS. A.КурбатовС. А.
Russian Federation
IvanovaE. A.ИвановаЕ. А.
Russian Federation
GaleevaN. M.ГалееваН. М.
Russian Federation
PolyakovA. V.ПоляковА. В.
Russian Federation
Voronezh Medical Genetic Counseling Center, Voronezh Regional Clinical Hospital OneВоронежская медико‑генетическая консультация, БУЗ ВО «Воронежская областная клиническая больница № 1»Medical Genetics Research Center, Russian Academy of Medical Sciences, MoscowФГБУ «Медико‑генетический научный центр» РАМН, Москва200620122355662002201520022015Copyright ©; 2012, Fedotov V.P., Kurbatov S.A., Ivanova E.A., Galeeva N.M., Polyakov A.V.Copyright ©; 2012, Федотов В.П., Курбатов С.А., Иванова Е.А., Галеева Н.М., Поляков А.В.2012Fedotov V.P., Kurbatov S.A., Ivanova E.A., Galeeva N.M., Polyakov A.V.Федотов В.П., Курбатов С.А., Иванова Е.А., Галеева Н.М., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/89

Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population. The differential diagnosis of early‑stage NMS poses a challenge to clinicians to this day. The investigation has attempted to elaborate informative differentiating criteria on the basis of a clinical and electromyographic study of 2 groups of patients with hereditary Thomsen or Becker myotonia (n = 45) and myotonic dystrophy type 1 (n = 39) verified by DNA analysis of the CLCN1 and DMPK genes. Along with the clinical symptoms, there may be the value of M‑response amplitude decrement in rhythmic stimulation of the n. ulnaris and the duration of myotonic discharges at pin electromyography of the m. tibialis anterior.

Наследственные миотонические синдромы (НМС) — группа генетически гетерогенных заболеваний ионных каналов хлора и натрия (каналопатии), с выраженным клиническим полиморфизмом и высокой распространенностью в популяции. Дифференциальная диагностика НМС в ранней стадии до настоящего времени составляет проблему для клиницистов. В работе предпринята попытка на основе клинико-электромиографического исследования 2 групп больных с врожденной миотонией Томсена и Беккера(n = 45) и с дистрофической миотонией 1‑го типа (n = 39), верифицированных ДНК‑анализом генов CLCN1 и DMPK, выработать информативные дифференцирующие критерии. Наряду с клиническими симптомами таковыми могут выступать величина декремента амплитуды М‑ответа при ритмической стимуляции n. ulnaris и длительность миотонических разрядов при игольчатой электромиографии m. tibialis anterior.

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