NEUROPHYSIOLOGICAL AND BIOCHEMICAL CRITERIA IN THE DIAGNOSIS OF PROGRESSIVE MUSCULAR DYSTROPHIES
Keywords:
progressive muscular dystrophy, electromyography, creatine kinase, biochemical markers, comprehensive diagnostics, neurophysiologyAbstract
A comprehensive clinical examination, electroneuromyography (ENMG), electromyography (EMG), biochemical tests (creatine kinase, lactate dehydrogenase, aminotransferases, troponin I), and inflammatory markers (interleukins, TNF-α) were performed in 25 patients with progressive muscular dystrophy. Creatine kinase levels were elevated in all patients, averaging 2840±1650 U/L. The highest values (4250±1980 U/L) were observed in patients with Duchenne muscular dystrophy. Electromyographic studies revealed myopathic changes in all patients: PDE amplitude was 485±180 μV, duration was 7.2±2.1 ms, and polyphasicity was 28.4±8.6%. Elevated troponin I levels were detected in 8 patients (32%). Most patients had elevated inflammatory markers (IL-1β, IL-6, TNF-α). Comprehensive diagnostics are highly effective in detecting progressive muscular dystrophy, increasing diagnostic accuracy to 92% and improving differential diagnosis of various forms of the disease.
References
Mercuri E., Bönnemann C.G., Muntoni F. Muscular dystrophies // Lancet. 2019. Vol. 394. P. 2025-2038.
Hoffman E.P., Brown R.H., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus // Cell. 1987. Vol. 51. P. 919-928.
Ryder S., Leadley R.M., Armstrong N. et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy // Orphanet J Rare Dis. 2017. Vol. 12. P. 79.
Mah J.K., Korngut L., Dykeman J. et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy // Neuromuscul Disord. 2014. Vol. 24. P. 482-491.
Bushby K., Finkel R., Birnkrant D.J. et al. Diagnosis and management of Duchenne muscular dystrophy, part 1 // Lancet Neurol. 2010. Vol. 9. P. 77-93.
Birnkrant D.J., Bushby K., Bann C.M. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2 // Lancet Neurol. 2018. Vol. 17. P. 347-361.
Mendell J.R., Rodino-Klapac L.R., Sahenk Z. et al. Eteplirsen for the treatment of Duchenne muscular dystrophy // Ann Neurol. 2013. Vol. 74. P. 637-647.
Clemens P.R., Rao V.K., Connolly A.M. et al. Safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy // JAMA Neurol. 2020. Vol. 77. P. 982-991.
Matthews E., Brassington R., Kuntzer T. et al. Corticosteroids for the treatment of Duchenne muscular dystrophy // Cochrane Database Syst Rev. 2016. Vol. 5. CD003725.
Griggs R.C., Herr B.E., Reha A. et al. Corticosteroids in Duchenne muscular dystrophy // Muscle Nerve. 2013. Vol. 48. P. 27-31.
Straub V., Murphy A., Udd B. et al. 229th ENMC international workshop: Limb girdle muscular dystrophies // Neuromuscul Disord. 2018. Vol. 28. P. 702-710.
Magri F., Govoni A., D'Angelo M.G. et al. Genotype and phenotype characterization in a large dystrophinopathy cohort // J Neurol. 2011. Vol. 258. P. 1610-1623.
Wicklund M.P. The muscular dystrophies // Continuum (Minneap Minn). 2019. Vol. 25. P. 1704-1729.
Hoffman E.P., Reeves E., Damsker J. et al. Novel approaches to corticosteroid treatment in Duchenne muscular dystrophy // Phys Med Rehabil Clin N Am. 2012. Vol. 23. P. 821-828.
Flanigan K.M. Duchenne and Becker muscular dystrophies // Neurol Clin. 2014. Vol. 32. P. 671-688.
Rutkove S.B. Electrical impedance myography: Background, current state, and future directions // Muscle Nerve. 2009. Vol. 40. P. 936-946.
Daube J.R., Rubin D.I. Needle electromyography // Muscle Nerve. 2009. Vol. 39. P. 244-270.
Zatz M., Rapaport D., Vainzof M. et al. Serum creatine-kinase and pyruvate-kinase activities in Duchenne compared with Becker muscular dystrophy // J Neurol Sci. 1991. Vol. 102. P. 190-196.
Burch P.M., Pogoryelova O., Goldstein R. et al. Muscle-derived proteins as serum biomarkers for monitoring disease progression // J Neuromuscul Dis. 2015. Vol. 2. P. 241-255.
Pegoraro E., Hoffman E.P., Piva L. et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy // Neurology. 2011. Vol. 76. P. 219-226.
Cacchiarelli D., Incitti T., Martone J. et al. miR-31 modulates dystrophin expression // EMBO Rep. 2011. Vol. 12. P. 136-141.
Kamdar F., Garry D.J. Dystrophin-deficient cardiomyopathy // J Am Coll Cardiol. 2016. Vol. 67. P. 2533-2546.
Bushby K., Muntoni F., Bourke J.P. The management of cardiac involvement in muscular dystrophy // Neuromuscul Disord. 2003. Vol. 13. P. 166-172.
Eagle M., Baudouin S.V., Chandler C. et al. Survival in Duchenne muscular dystrophy // Neuromuscul Disord. 2002. Vol. 12. P. 926-929.
Bushby K., Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy // Clin Investig (Lond). 2011. Vol. 1. P. 1217-1235.
McDonald C.M., Henricson E.K., Abresch R.T. et al. The cooperative international neuromuscular research group duchenne natural history study // Muscle Nerve. 2013. Vol. 48. P. 32-54.
Ciafaloni E., Fox D.J., Pandya S. et al. Delayed diagnosis in Duchenne muscular dystrophy // J Pediatr. 2009. Vol. 155. P. 380-385.
Normatov I.U., Xakimova G.A. Nerv-mushak kasalliklarining epidemiologiyasi // Nevrologiya jurnali. 2020. №3. 15-22 b.
Raximov A.R., Yusupova N.A. O‘zbekistonda mushak distrofiyalarining tarqalishi // Tibbiyot jurnali. 2021. №2. 45-52 b.
Hathout Y., Brody E., Clemens P.R. et al. Larg
