Email this article Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes
- Authors: Fedotov V.P.1, Kurbatov S.A.1, Ivanova E.A.2, Galeeva N.M.2, Polyakov A.V.2
-
Affiliations:
- Voronezh Medical Genetic Counseling Center, Voronezh Regional Clinical Hospital One
- Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow
- Issue: Vol 2, No 3 (2012)
- Pages: 55-66
- Section: ORIGINAL REPORTS
- Published: 20.06.2012
- URL: https://nmb.abvpress.ru/jour/article/view/89
- DOI: https://doi.org/10.17650/2222-8721-2012-0-3-55-66
- ID: 89
Cite item
Full Text
Abstract
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.
About the authors
V. P. Fedotov
Voronezh Medical Genetic Counseling Center, Voronezh Regional Clinical Hospital One
Author for correspondence.
Email: fed_val@list.ru
Russian Federation
S. A. Kurbatov
Voronezh Medical Genetic Counseling Center, Voronezh Regional Clinical Hospital One
Email: fake@neicon.ru
Russian Federation
E. A. Ivanova
Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow
Email: fake@neicon.ru
Russian Federation
N. M. Galeeva
Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow
Email: fake@neicon.ru
Russian Federation
A. V. Polyakov
Medical Genetics Research Center, Russian Academy of Medical Sciences, Moscow
Email: fake@neicon.ru
Russian Federation
References
Supplementary files
