Contemporary aspects of spinal muscular atrophy diagnosis and the treatment strategies in children

Authors

DOI:

https://doi.org/10.22141/2224-0713.16.7.2020.218246

Keywords:

spinal muscular atrophy, progressive muscular weakness, disease-modifying therapy

Abstract

The article presents up-to-date data on the peculiarities of the diagnosis of spinal muscular atrophy (SMA) in childhood. It has been shown that the progressive motor neurons degeneration in the spinal cord and brainstem resulting in system damage, such as progressive muscle weakness, hypotonia, muscles atrophy, developmental delay, bulbar syndrome, paradoxical breathing, heart, respiratory failure, damage to the bones and internal organs, is caused by survival of motor neuron 1 gene mutation, which codes for a full-length survival motor neuron protein necessary for motor neurons. Consequently, genetic testing is important to confirm SMA diagnosis as early as possible to prescribe treatment for the patients in time. Moreover, prescribed SMA treatment according to contemporary standards using the new disease-modifying medicines have created a turning point in SMA management and it appeared to slow disease progression and prolong motor development and ability to walk compared to the known natural history.

References

Raja SN, Carr DB, Cohen M, et al. The revised International Association for the Study of Pain definition of pain: concepts, challenges, and compromises. Pain. 2020;161(9):1976-1982. doi: 10.1097/j.pain.0000000000001939

Treede RD, Rief W, Barke A, et al. Chronic pain as a symptom or a disease: the IASP classification of chronic pain for the international classification of diseases (ICD-11). Pain. 2019;160(1):19-27. doi: 10.1097/j.pain.0000000000001384.

Woolf CJ. Central sensitization: implications for the diagnosis and treatment of pain. Pain. 2011;152(3):2–15. doi: 10.1016/j.pain.2010.09.030

Freynhagen R., Parada HA, Calderon-Ospina CA, et al. Current understanding of the mixed pain concept: a brief narrative review. Curr Med Res Opin. 2019;35(6):1011-1018. doi: 10.1080/03007995.2018.1552042.

Rosenberger DC, Blechschmidt V, Timmerman H, Wolff A, Treede R‑D. Challenges of neuropathic pain: focus on diabetic neuropathy. Journal of Neural Transmission. 2020;127(4):589–624. doi: 10.1007/s00702-020-02145-7.

Zhumalieva VA. Modern represantation of the pathogenesis of neuropathic chronic pain. Medicine and ecology. 2015;4:25-32.

Trouvin A-P, Perrot S. New concepts of pain. Best Practice & Research Clinical Rheumatology. 2019;33(3):101415. doi: 10.1016/j.berh.2019.04.007.

Chimenti RL, Frey-Law LA, Sluka KA. Mechanism-Based Approach to Physical Therapist Management of Pain. Phys Ther. 2018;98(5):302–314. doi: 10.1093/ptj/pzy030

Solov'eva JeJu, Karneev AN, Ivanokov AN, Dzhutova JeD. Dexketoprofen in the treatment of acute back pain. Neurology and psychiatry. 2012;5:36-40.

Romanenko IG, Gorobec SM, Konjaeva EI, i dr. Use of nonsteroidanti-inflammatory substances in pediatric dentistry. Tavrichesky medical and biological bulletin. 2012;15(4):320-323.

Pobel EA. Comparative study of the drug Dexalgin and other analgesics used for postoperative pain relief. Polyclinic. 2012;2:40- 42.

Torshin IJu, Gromova OA, Fedotova LJe, Gromov AN. Comparative chemoreactome analysis of dexketoprofen, ketoprofen, and diclofenac. Neurology, neuropsychiatry, psychosomatics. 2018;10(1):47–54. doi:10.14412/2074-2711-2018-1-47-54

Pilipovich AA. Dexketoprofen: Potential Neurological Applications. Consilium Medicum. 2018;20(9):71–75. doi: 10.26442/2075-1753_2018.9.71-75

Chichasova NV. New approaches to the relief of acute pain syndrome in rheumatology and neurology. Consilium Medicum. 2009;11(2):50-55.

Pchelincev MV. Pain syndrome in oncology. Possibilities of using dexketoprofen. Medical advice. 2020;9:146–154. doi: 10.21518/2079-701X-2020-9-146-154.

Romero-Alejo E, Puig MM, Romero A. Antihyperalgesic effects of dexketoprofen and tramadol in a model of postop­erative pain in mice - effects on glial cell activation. J Pharm Pharmacol. 2016;68(8):1041-50. doi: 10.1111/jphp.12584.

Mirandaa HF, Sierraltab F, Arandab N, Noriegaa V, Prietoa JC. Pharmacological profile of dexketoprofen in orofacial pain. Pharmacological Reports. 2016;68(6):1111–1114. DOI: 10.1016/j.pharep.2017.08.003

Truhan DI, Bagisheva NV, Goloshubina VV, Konshu NV. Possibilities of dexketoprofen in the treatment of pain syndrome at the stage of primary health care. International Journal of Applied and Basic Research. 2017;5:263-268.

Moore RA, Barden J. Systematic review of dexketoprofen in acute and chronic pain. BMC Clin Pharmacol. 2008;8:11. doi: 10.1186/1472-6904-8-11.

Ong CKS, Lirk P, Tan CH, Seymour RA. An Evidence-Based Update on Nonsteroidal Anti-Inflammatory Drugs. Clinical Medicine & Research. 2007;5(1):19-34. doi: 10.3121/cmr.2007.698.

Brzeziński K, Wordliczek J. Comparison of the efficacy of dexketoprofen and diclofenac in treatment of non-specific low back pain. Ann Agric Environ Med. 2013;1:52–56.

Anıl A, Kaya FN, Yavaşcaoğlu B, Efe EM, Türker G, Demirci A. Comparison of postoperative analgesic efficacy of intraoperative single-dose intravenous administration of dexketoprofen trometamol and diclofenac sodium in laparoscopic cholecystectomy. Journal of Clinical Anesthesia. 2016;32:127-133. doi.org/10.1016/j.jclinane.2016.02.020

Rodriguez M, Contreras D, Galvez R, et al. Double-blind evaluation of short-term analgesic efficacy of orally administered dexketoprofen trometamol and ketorolac in bone cancer pain. Pain. 2003;104(1–2):103–110. doi: 10.1016/S0304-3959(02)00470-0.

Sivrikoz N, Koltka K, Güresti E, Büget M, Şentürk M, Özyalçin S. Perioperative dexketoprofen or lornoxicam administration for pain management after major orthopedic surgery: a randomized, controlled study. AĞRI. 2014;26(1):23-28. doi: 10.5505/agri.2014.09821

Kesimci E, Gümüş T, İzdeş S, Şen P, Kanbak O. Сomparison of efficacy of dexketoprofen versus paracetamol on postoperative pain and morphine consumption in laminectomy patients. AĞRI. 2011;23(4):153-159 doi: 10.5505/agri.2011.86548

Yang B, Xu Z, Chen L, Chen X, Xie Y. The efficacy of dexketoprofen for migraine attack. A meta-analysis of randomized controlled studies. Medicine. 2019;98(46):e17734. doi: 10.1097/MD.0000000000017734.

Mainardi F, Maggioni F, Pezzola D, Zava D, Zanchin G. Dexketoprofen Trometamol in the Acute Treatment of Migraine Attack: A Phase II, Randomized, Double-Blind, Crossover, Placebo-Controlled, Dose Optimization Study. The Journal of Pain. 2014;15(4):388-394. doi: 10.1016/j.jpain.2013.12.006.

Gungor F, Akyol KC, Kesapli M, et al. Intravenous dexketoprofen vs placebo for migraine attack in the emergency department: A randomized, placebo-controlled trial. Cephalalgia. 2016;36(2):179-184. doi: 10.1177/0333102415584604

Andrew Moore1 R, Gay-Escoda C, Figueiredo R, et al. Dexketoprofen/tramadol: randomised double-blind trial and confirmation of empirical theory of combination analgesics in acute pain. The Journal of Headache and Pain. 2015;16:60. doi 10.1186/s10194-015-0541-5

Varrassi G, Hanna M, Macheras G, et al. Multimodal analgesia in moderate-to-severe pain: a role for a new fixed combination of dexketoprofen and tramadol. Curr Med Res Opin. 2017;33(6):1165-1173. doi: 10.1080/03007995.2017.1310092.

Laporte J-R, Ibáñez L, Vidal X, Vendrell L, Leone R. Upper gastrointestinal bleeding associated with the use of NSAIDs: newer versus older agents. Drug Saf. 2004;27(6):411-20. doi: 10.2165/00002018-200427060-00005.

Carne X, Rios J, Torres F. Postmarketing cohort study to assess the safety profile of oral dexketoprofen trometamol for mild to moderate acute pain treatment in primary care. Methods and Findings in Experimental and Clinical Pharmacology. 2009;31(8):533-40. doi: 10.1358/mf.2009.31.8.1419070.

Rey-Matias RR, Leochico CFD, Nilo GS. Effectiveness and Safety of Oral Dexketoprofen for Mild to Moderate Pain among Filipino Adults: A Post-marketing Surveillance Study. J Pain Relief. 2018;7:319. doi: 10.4172/2167-0846.1000319

Hanna M, Moon JY. A review of dexketoprofen trometamol in acute pain. Current Medical Research and Opinion. 2019;35(2):189-202. doi: 10.1080/03007995.2018.1457016

Kajmak TV, Kalieva AK, Ospanov BT, Chajko VI, Ishmuhametov RSh. Back pain: relief of acute pain syndromes of the lumbar region of vertebral genesis. Medicine. 2013;11:53-56.

Plotnikova EJu, Zolotuhina VN, Isakov LK, i dr. Efficacy and safety of various nonsteroidal anti-inflammatory drugs for acute neck and back pain. Neurology, neuropsychiatry, psychosomatics. 2020;12(2):42–47. doi: 10.14412/2074-2711-2020-2-42-47

Zippel H, A Wagenitz A. multicentre, randomised, double-blind study comparing the efficacy and tolerability of intramuscular dexketoprofen versus diclofenac in the symptomatic treatment of acute low back pain Clin Drug Investig. 2007;27(8):533-43. doi: 10.2165/00044011-200727080-00002.

Published

2020-10-01

Issue

Section

To practicing Neurologist