Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes
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 t...
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Online Access: | https://nmb.abvpress.ru/jour/article/view/89 |
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doaj-c52e338199c4417488580c83d69e06d12021-07-29T08:13:27ZrusABV-pressNervno-Myšečnye Bolezni2222-87212413-04432015-02-0103556610.17650/2222-8721-2012-0-3-55-6683Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromesV. P. Fedotov0S. A. Kurbatov1E. A. Ivanova2N. M. Galeeva3A. V. Polyakov4Voronezh Medical Genetic Counseling Center, Voronezh Regional Clinical Hospital OneVoronezh Medical Genetic Counseling Center, Voronezh Regional Clinical Hospital OneMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowMedical Genetics Research Center, Russian Academy of Medical Sciences, MoscowHereditary 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.https://nmb.abvpress.ru/jour/article/view/89congenital thomsen/becker myotoniamyotonic dystrophy type 1stimulation and pin electromyographymyotonic dischargesm‑response amplitude decrementdiagnosisdifferential diagnosismutations in the clcn1 and dmpk genes |
collection |
DOAJ |
language |
Russian |
format |
Article |
sources |
DOAJ |
author |
V. P. Fedotov S. A. Kurbatov E. A. Ivanova N. M. Galeeva A. V. Polyakov |
spellingShingle |
V. P. Fedotov S. A. Kurbatov E. A. Ivanova N. M. Galeeva A. V. Polyakov Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes Nervno-Myšečnye Bolezni congenital thomsen/becker myotonia myotonic dystrophy type 1 stimulation and pin electromyography myotonic discharges m‑response amplitude decrement diagnosis differential diagnosis mutations in the clcn1 and dmpk genes |
author_facet |
V. P. Fedotov S. A. Kurbatov E. A. Ivanova N. M. Galeeva A. V. Polyakov |
author_sort |
V. P. Fedotov |
title |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
title_short |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
title_full |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
title_fullStr |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
title_full_unstemmed |
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
title_sort |
clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes |
publisher |
ABV-press |
series |
Nervno-Myšečnye Bolezni |
issn |
2222-8721 2413-0443 |
publishDate |
2015-02-01 |
description |
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. |
topic |
congenital thomsen/becker myotonia myotonic dystrophy type 1 stimulation and pin electromyography myotonic discharges m‑response amplitude decrement diagnosis differential diagnosis mutations in the clcn1 and dmpk genes |
url |
https://nmb.abvpress.ru/jour/article/view/89 |
work_keys_str_mv |
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1721256945009033216 |