Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press14010.17650/2222-8721-2016-6-1-74-81CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРA case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenitaСлучай миотонии Беккера с псевдодоминантным типом наследования: современные подходы к дифференциальной диагностике миотоний Томсена и БеккераKurbatovS. A.КурбатовС. А.
Russian Federation
kurbatov80@gmail.comNikitinS. S.НикитинС. C.
Russian Federation
IllarioshkinS. N.ИллариошкинС. Н.
Russian Federation
GundorovaP.ГундороваП.
Russian Federation
PolyakovA. V.ПоляковА. В.
Russian Federation
Voronezh Medical Genetic Consulting and Diagnostic CenterАУЗ ВО «Воронежский областной клинический консультативно-диагностический центр»5А square Lenina, Voronezh, 394018, RussiaРоссия, 394018, Воронеж, пл. Ленина, 5АMedical Center “Practical Neurology”, Society of Neuromuscular Disease SpecialistsРегиональная общественная организация Общество специалистов по нервно-мышечным болезням», Медицинский центр «Практическая неврология»Build. 2, 17 Krzhizhanovsky St., Moscow, 117218, RussiaРоссия, 117218, Москва, ул. Кржижановского, 17, корп. 2Neurology Research CenterФГБНУ «Научный центр неврологии»80 Volokolamskoe Shosse, Moscow, 125367, RussiaРоссия, 125367, Москва, Волоколамское шоссе, 80Research Center of Medical GeneticsФГБНУ «Медико-генетический научный центр»1 Moskvorech’e St., Moscow, 115522, RussiaРоссия, 115487, Москва, ул. Москворечье, 1290320166174812903201629032016Copyright ©; 2016, Kurbatov S.A., Nikitin S.S., Illarioshkin S.N., Gundorova P., Polyakov A.V.Copyright ©; 2016, Курбатов С.А., Никитин С.C., Иллариошкин С.Н., Гундорова П., Поляков А.В.2016Kurbatov S.A., Nikitin S.S., Illarioshkin S.N., Gundorova P., Polyakov A.V.Курбатов С.А., Никитин С.C., Иллариошкин С.Н., Гундорова П., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/140

Myotonia congenital (MC) is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1) which change the functional features of muscle fibers membrane. MC is represented by two allelic forms with different types of inheritance: Thomsen’s myotonia congenita (TMC) with an autosomal dominant and Becker’s myotonia congenita (BMC) with an autosomal recessive inheritance. Both forms, TMC and BMC have the same clinical manifestation: skeletal muscle hypertrophy, transient weakness, generalized myotonia, debut in early childhood and a stationary development. Diseases are characterized by equal neurophysiological changes. In the family usually only one patient is detected. In some cases with the horizontal segregation diseases, more than one mutation in CLCN1 gene is found. These factors complicate the diagnosis of TMC and BMC, further medical and genetic counseling of the family members even after the patient’s genotype is detected. The confirmed BMC case with pseudo dominant type of inheritance and limited clinical manifestation is discussed in the light of differential diagnosis of the two discussed diseases. 

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