Email this article Organization experience of diagnostic and medicosocial services for patients with Charcot—Marie—Tooth disease in Krasnoyarsk region
- Authors: Glushchenko E.V.1, Shnayder N.A.1, Kantimirova E.A.1, Kozulina E.A.1, Voevoda M.I.2, Maksimov V.N.2, Allakhverdyan A.A.2
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Affiliations:
- Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky, Krasnoyarsk
- Scientific Research Institute of Therapy of Siberian Department of Russian Academy of Medical Science, Novosibirsk
- Issue: Vol 2, No 1 (2012)
- Pages: 41-52
- Section: CLINICAL REPORTS
- Published: 20.02.2012
- URL: https://nmb.abvpress.ru/jour/article/view/73
- DOI: https://doi.org/10.17650/2222-8721-2012-0-1-41-52
- ID: 73
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Abstract
Hereditary neuropathy Charcot-Marie-Tooth (CMT) is the most common form of hereditary polyneuropathies. Goal of the study was the development of evidence-based diagnostic and treatment algorithms using patients with CMT (for example, in Krasnoyarsk Territory).
Materials and methods: A total of 324 people. (probands and their relatives 1 and 2 lines of kinship). We analyzed 125 (38,5 %) clinical cases of CMT, 64/125 (51,2 %) clinical cases were include to statistical analysis (probands and their family trees, past the full range of clinical and laboratory findings according to the protocol this study). Age ranged from 6 to 81 years, median age — 30,5 years, including women 24 (37,5 %), median age — 33,5 years; males 40 (62,5 %), median age — 28,5 years. Methods of diagnosis: clinical, genetic, neurophysiological, molecular genetic, assessment of quality of life assessment of anxiety and depression.
Results: The family history of CMT noted in 53/57 (93,0 %) cases, with a predominance of autosomal dominant type of inheritance —
52 (91,2 %) cases. As a result of DNA testing duplication of peripheral myelin protein gene (RMR22) on chromosome 17, held 34 survey, this mutation was found in 17 (50,0 %) patients. Modified method of computer esthesiometry for CMT diagnosis using domestic diagnostic equipment “Vibrotester-MBN” BT-02-1 has a high sensitivity in the early stages of the disease and can be recommended for more widespread adoption of on par with other subjects of the Russian Federation.
About the authors
E. V. Glushchenko
Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky, Krasnoyarsk
Email: fake@neicon.ru
Russian Federation
N. A. Shnayder
Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky, Krasnoyarsk
Author for correspondence.
Email: NASchnaider@yandex.ru
Russian Federation
E. A. Kantimirova
Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky, Krasnoyarsk
Email: fake@neicon.ru
Russian Federation
E. A. Kozulina
Krasnoyarsk State Medical University named after prof. V.F. Voyno-Yasenetsky, Krasnoyarsk
Email: fake@neicon.ru
Russian Federation
M. I. Voevoda
Scientific Research Institute of Therapy of Siberian Department of Russian Academy of Medical Science, Novosibirsk
Email: fake@neicon.ru
Russian Federation
V. N. Maksimov
Scientific Research Institute of Therapy of Siberian Department of Russian Academy of Medical Science, Novosibirsk
Email: fake@neicon.ru
Russian Federation
A. A. Allakhverdyan
Scientific Research Institute of Therapy of Siberian Department of Russian Academy of Medical Science, Novosibirsk
Email: fake@neicon.ru
Russian Federation
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