CLINICAL DIAGNOSTIC MARKERS OF HEREDITARY MOTORSENSORY POLYNEUROPATHY IN CHILDREN
Abstract
The article discusses the problem of clinical and paraclinical diagnostics of early neurological disorders in children with Нereditary Motosensor Рolyneuropathy (NMSP). The attention is focused on early identification ENMG markers mielin-, axonopathy and neurophysiological predictors of progredient of the pathological process according to ENMG-monitoring in the development pattern of early diagnosis of NMSP and standardization pathogenetic therapy with the use of modern medication, prevention of complications and disability.
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2. Евтушенко С.К. Новые современные технологии в терапии нервно-мышечных заболеваний, направленные на замедление их прогрессирования / С.К. Евтушенко, М.Р. Шаймурзин // Український вісник психоневрології. – Том 17, вип. 2(59). – 2009. – C. 125-130.
3. Bertorini T. Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies / T. Bertorini, P. Narayanaswami, H. Rashed // The Neurologist. – 2004. - Vol. 10 (6). - P. 327-337.
4. Bischoff C. Standards of insrumentation of EMG. In Recommendation for the practice of clinical neurophysiology: Guidelines of the International Federation of clinical neurophysiology / C. Bischoff, A. Fuglsang-Fridriksen, L. Vendelbo, A. Sumner // Supplement 52 to Electroencephalography and clinical neurophysiology. Ed. by G.Deuschl and A.Eisen. – 2009. – P. 199-211.
5. Ferrarin M. Reliability of instrumented movement analysis as outcome measure in Charcot-Marie-Tooth disease: results from a multitask locomotor protocol / M. Ferrarin, G. Bovi, M. Rabuffetti, P. Mazzoleni, A. Montesano, I. Moroni et al. // Gait Posture. – 2011. – Vol. 34 (1). – P. 36-43.
6. Genetic spectrum of hereditary neuropathies with onset in the first year of life / J. Baets, T. Deconinck, E. De Vriendt, M. Zimoń et al. // Brain. – 2011. – Vol.134 (Pt 9). – P. 2664 - 2676.
7. Hashiguchi A. Hereditary neuropathy: variety of disease-causing genes and progress of molecular genetic diagnosis / A. Hashiguchi, H. Takashima // Brain Nerve. – 2011. – Vol. 63 (6). – P. 539-548.
8. Heidenreich W.F. Hereditary neuropathy / W.F. Heidenreich // J Insur Med. – 2010. – Vol. 42 (1). – P. 30-33.
9. Jani-Acsadi A. Charcot-Marie-Tooth neuropathies: diagnosis and management / A. Jani-Acsadi, K. Krajewski, M.E. Shy // Semin Neurol. – 2008. – Vol. 28 (2). – P. 185-194.
10. Kotruchow K. Molecular pathogenesis of hereditary motor and sensory neuropathy / K. Kotruchow, D. Kabzińska, K. Karpińska, A. Kochański // Postepy Biochem. – 2011. – Vol.57 (3). – P. 283-293.
11. Matiasek K. Charcot-Marie-Tooth disease: inherited neuropathies revisited / K. Matiasek, C. Drögemüller // Vet J. – 2011. – Vol. 188 (3). – P. 254-255.
12.Miller L.J. Strategy for genetic testing in Charcot-Marie-disease / L.J. Miller, A.S. Saporta, S.L. Sottile, C.E. Siskind, S.M. Feely et al // Acta Myol. – 2011. – P. 109-116.
13. Nakagawa M. A commentary on Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in
39
Japan / M. Nakagawa // J Hum Genet. – 2011. – Vol. 56 (5). – P. 341-342.
14. Pareyson D. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease / D. Pareyson, C. Marchesi // Lancet Neurol – 2009. – Vol. 8 (7). – P. 654-667.
15. Pitt M. Paediatric electromyography in the modern world: a personal view / M.Pitt // Dev Med Child Neurol. – 2011. – Vol. 53 (2). – P. 120-124.
16. Reilly M.M. Charcot-Marie-Tooth disease / M.M. Reilly, S.M. Murphy, M. Laurá // J Peripher Nerv Syst. – 2011. – Vol. 16(1). – P. 1-14.
17. Reilly M.M. Diagnosis and new treatments in genetic neuropathies / M.M. Reilly, M.E.Shy // J Neurol. Neurosurg.Psychiatry. – 2009. – Vo l (80). – P. 1304-1314.
18. Saporta A.S. Charcot-Marie-Tooth disease subtypes and genetic testing strategies / A.S. Saporta, S.L. Sottile, L.J. Miller, S.M. Feely, C.E .Siskind, M.E. Shy // Ann Neurol. – 2011. – Vol. 69 (1). – P. 22-33.
19. Studies of electromyography and genetics in children with Charcot-Marie-Tooth disease type 1 / X.L. Pan, N.N. Zhang, H.L. Ye, Y.F. Zhao, H. Gao // Zhongguo Dang Dai Er Ke Za Zhi. – 2011. - Vol. 13 (8). – P. 647-650.
20. Treatment and Management of CMT / Charcot-Marie-Tooth Association // Press release. – 2010.
Published
2020-07-19
How to Cite
ШАЙМУРЗИН, М. Р.; ЕВТУШЕНКО, О. С.; ЕВТУШЕНКО, Л. Ф..
CLINICAL DIAGNOSTIC MARKERS OF HEREDITARY MOTORSENSORY POLYNEUROPATHY IN CHILDREN.
Архив клинической и экспериментальной медицины, [S.l.], v. 26, n. 1, p. 34-39, july 2020.
ISSN 1605-9360. Available at: <http://journal.dnmu.ru/index.php/akem/article/view/585>. Date accessed: 14 dec. 2025.
Section
Оригинальные исследования
