Diagnóstico y tratamiento de la esclerosis lateral amiotrófica
DOI:
https://doi.org/10.5281/zenodo.10966005Palavras-chave:
esclerosis lateral amiotrófica, genética, neuronas motoras, disartriaResumo
Introducción: la esclerosis lateral amiotrófica es considerada una enfermedad multifactorial y de largo peregrinaje diagnóstico, en la cual el deterioro del paciente ocurre de manera rápida y sin retorno.
Objetivo: actualizar sobre el diagnóstico y tratamiento de la esclerosis lateral amiotrófica.
Método: se realizó una revisión bibliográfica sobre la asociación de los factores que se han estudiado a lo largo del tiempo, así como su clínica, tratamiento y los avances tecnológicos más relevantes en los últimos cinco años acerca de la Esclerosis Lateral Amiotrófica, mediante buscadores electrónicos como: Clinical Key, Pubmed, Scopus, Sciense direct, Web of Science, Google Scholar, y se tomaron en cuenta artículos científicos de relevancia médica, libros y guías reconocidas dentro de la comunidad científica.
Desarrollo: es una enfermedad neuronal compleja que conduce a una disfunción neuronal progresiva, lo que provoca rigidez, espasmos, debilitamiento y atrofia de los músculos voluntarios, y en última instancia, la muerte del paciente. Los dispositivos de control ocular y el uso de sillas de ruedas que utilizan la interfaz cerebral son un gran avance en la terapia, con mayor accesibilidad y disponibilidad en relación con las nuevas tecnologías robóticas.
Consideraciones finales: existe una relación genética, epigenética y ambiental estrechamente ligada con el desarrollo de la Esclerosis Lateral Amiotrófica. El tratamiento farmacológico en conjunto con los avances tecnológicos proporciona una mejor calidad de vida a estos pacientes, pero no existe una cura definitiva para esta enfermedad.
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Referências
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3. Zhou S, Zhou Y, Qian S, Chang W, Wang L, Fan D. Amyotrophic lateral sclerosis in Beijing: Epidemiologic features and prognosis from 2010 to 2015. Brain Behav. [Internet]. 2018 [citado 11 Oct 2023]. 8(11):e01131. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236245/
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5. Ingre C, Roos PM, Piehl F, Kamel F, Fang F. Risk factors for amyotrophic lateral sclerosis. Clin Epidemiol. [Internet]. 2015 [citado 7 Abr 2024]. 7:181-93. DOI: https://doi.org/10.2147/CLEP.S37505
6. Udine E, Jain A, van Blitterswijk M. Advances in sequencing technologies for amyotrophic lateral sclerosis research. Mol Neurodegener. [Internet]. 2023[citado 7 Abr 2024]. 18(1):4. DOI: https://doi.org/10.1186/s13024-022-00593-1
7. Tondo G, Mazzini L, Caminiti SP, Sarnelli MF, Corrado L, Matheoud R, et al. Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. NeuroImage Clin. [Internet]. 2022 [citado 11 Oct 2023]. 36:103222. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668615/#
8. Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, et al. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep [Internet]. 2022 [citado 11 Oct 2023]; 39(1). Disponible en: https://www.cell.com/cell-reports/abstract/S2211-1247(22)00346-1
9. Chen J, Bassot A, Giuliani F, Simmen T. Amyotrophic Lateral Sclerosis (ALS): Stressed by Dysfunctional Mitochondria-Endoplasmic Reticulum Contacts (MERCs). Cells. [Internet]. 2021 [citado 7 Abr 2024]; 10(7):1789. DOI: https://doi.org/10.3390/cells10071789
10. Mentis AFA, Bougea AM, Chrousos GP. Amyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored? Aging Brain. [Internet]. 2021 [citado 7 Abr 2024]; 1:100024. DOI: https://doi.org/10.1016/j.nbas.2021.100024
11. Nabizadeh F, Balabandian M, Sharafi AM, Ghaderi A, Rostami MR, Naser Moghadasi A. Statins and risk of amyotrophic lateral sclerosis: a systematic review and meta-analysis. Acta Neurol Belg. [Internet]. 2022 [citado 7 Abr 2024]. 122(4):979-86. DOI: https://doi.org/10.1007/s13760-021-01753-8
12. Chiò A, Mazzini L, Mora G. Disease-modifying therapies in amyotrophic lateral sclerosis. Neuropharmacology. [Internet]. 2020[citado 7 Abr 2024]. 167:107986. DOI: https://doi.org/10.1016/j.neuropharm.2020.107986
13. Jiang J, Wang Y, Deng M. New developments and opportunities in drugs being trialed for amyotrophic lateral sclerosis from 2020 to 2022. Front Pharmacol [Internet]. 2022 [citado 8 jul de 2023]; 13. Disponible en: https://www.frontiersin.org/articles/10.3389/fphar.2022.1054006
14. Logroscino G, Urso D, Tortelli R. The challenge of amyotrophic lateral sclerosis descriptive epidemiology: to estimate low incidence rates across complex phenotypes in different geographic areas. Curr Opin Neurol. [Internet]. 2022 [citado 8 jul de 2023]; 35(5): 678–685. DOI: https://doi.org/10.1097/WCO.0000000000001097
15. Martinelli I, Zucchi E, Simonini C, Gianferrari G, Zamboni G, Pinti M, et al. The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis. Neural Regen Res. [Internet]. 2023 [citado 8 jul de 2023]; 18(7):1427. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10075107/
16. Monsour M, Garbuzova-Davis S, Borlongan CV. Patching Up the Permeability: The Role of Stem Cells in Lessening Neurovascular Damage in Amyotrophic Lateral Sclerosis. Stem Cells Transl Med. [Internet]. 2022 [citado 8 jul de 2023]; 11(12):1196-209. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801306/
17. Cha SJ, Kim K. Effects of the Edaravone, a Drug Approved for the Treatment of Amyotrophic Lateral Sclerosis, on Mitochondrial Function and Neuroprotection. Antioxidants. [Internet]. 2022 [citado 8 jul de 2023]; 11(2):195. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8868074/
18. López-Gómez JJ, De Luis-Román DA. Soporte nutricional en el paciente con esclerosis lateral amiotrófica: una revisión sistemática. Nutr Clin EN Med. [Internet]. 2018 [citado 8 jul de 2023]; (1):53-71. Disponible en: http://www.aulamedica.es/nutricionclinicamedicina/pdf/5073.pdf
19. Pugliese R, Sala R, Regondi S, Beltrami B, Lunetta C. Emerging technologies for management of patients with amyotrophic lateral sclerosis: from telehealth to assistive robotics and neural interfaces. J Neurol. [Internet]. 2022 [citado 8 jul de 2023]; 269(6):2910-21. Disponible en: https://link.springer.com/article/10.1007/s00415-022-10971-w
20. Soares Júnior, Gilberto Gomes. Tecnologias habilitadoras da indústria 4.0 aplicadas para melhoria da segurança do trabalho na construção civil. 2021. 103 f. Dissertação (Programa de Pós-Graduação de Mestrado e Doutorado em Engenharia de Produção) - Universidade Nove de Julho, São Paulo. Disponible en: https://bibliotecatede.uninove.br/handle/tede/2805
21. Sousa WSM de, Lopes DC, Silva DAC, Adad AC de M, Ribeiro JP da CM, Deus LRS de, et al. Interface cérebro-máquina: avanços na neurociência e o desenvolvimento de bioeletrodos. Res Soc Dev. [Internet]. 2022 [citado 7 Abr 2024]; 11(12):e489111235046-e489111235046. DOI: http://dx.doi.org/10.33448/rsd-v11i12.35046
22. Demaree D, Brignone J, Bromberg M, Zhang H. Preliminary Study on Effects of Neck Exoskeleton Structural Design in Patients With Amyotrophic Lateral Sclerosis. IEEE transactions on neural systems and rehabilitation engineering: a publication of the IEEE Engineering in Medicine and Biology Society, [Internet]. 2024 [citado 10 jul 2024]. 32, 1841–1850. DOI: https://doi.org/10.1109/TNSRE.2024.3397584
23. Manero AC, McLinden SL, Sparkman J, Oskarsson B. Evaluating surface EMG control of motorized wheelchairs for amyotrophic lateral sclerosis patients. J NeuroEngineering Rehabil. [Internet]. 2021 [citado 7 Abr 2024]; 19(1):88. DOI: https://doi.org/10.1186/s12984-022-01066-8
24. Edughele HO, Zhang Y, Muhammad-Sukki F, Vien QT, Morris-Cafiero H, Opoku Agyeman M. Eye-Tracking Assistive Technologies for Individuals With Amyotrophic Lateral Sclerosis. IEEE Access. [Internet]. 2022 [citado 11 Oct 2023]; 10:41952-72. DOI: https://doi.org/10.1109/ACCESS.2022.3164075
25. Wang Z, Zhang A, Xia X, Zhang S, Li H, Wang J, et al. A Visual Feedback Supported Intelligent Assistive Technique for Amyotrophic Lateral Sclerosis Patients. Adv Intell Syst. [Internet]. 2022 [citado 11 Oct 2023]; 4(4):2100097. DOI: https://doi.org/10.1002/aisy.202100097
26. Nabizadeh F. Biomaterials in The Treatment of Amyotrophic Lateral Sclerosis. Neurol Lett. [Internet]. 2022 [citado 7 Abr 2024]; 1(1):12-6. Disponible en: https://www.neurologyletters.com/article_151620.html
27. Zhou S, Zhou Y, Qian S, Chang W, Wang L, Fan D. Amyotrophic lateral sclerosis in Beijing: Epidemiologic features and prognosis from 2010 to 2015. Brain Behav. [Internet]. 2018 [citado 11 Oct 2023]; 8(11):e01131. DOI: https://doi.org/10.1002/brb3.1131
2. Mead RJ, Shan N, Reiser HJ, Marshall F, Shaw PJ. Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation. Nat Rev Drug Discov. [Internet]. 2023 [citado 7 Abr 2024]. 22(3):185-212 DOI: https://doi.org/10.1038/s41573-022-00612-2
3. Zhou S, Zhou Y, Qian S, Chang W, Wang L, Fan D. Amyotrophic lateral sclerosis in Beijing: Epidemiologic features and prognosis from 2010 to 2015. Brain Behav. [Internet]. 2018 [citado 11 Oct 2023]. 8(11):e01131. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236245/
4. Faghri F, Brunn F, Dadu A, Chiò A, Calvo A, Moglia C, et al. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study. Lancet Digit Health. [Internet]. 2022[citado 11 Oct 2023]. 4(5): e359-69. DOI: https://doi.org/10.1016/S2589-7500(21)00274-0
5. Ingre C, Roos PM, Piehl F, Kamel F, Fang F. Risk factors for amyotrophic lateral sclerosis. Clin Epidemiol. [Internet]. 2015 [citado 7 Abr 2024]. 7:181-93. DOI: https://doi.org/10.2147/CLEP.S37505
6. Udine E, Jain A, van Blitterswijk M. Advances in sequencing technologies for amyotrophic lateral sclerosis research. Mol Neurodegener. [Internet]. 2023[citado 7 Abr 2024]. 18(1):4. DOI: https://doi.org/10.1186/s13024-022-00593-1
7. Tondo G, Mazzini L, Caminiti SP, Sarnelli MF, Corrado L, Matheoud R, et al. Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers. NeuroImage Clin. [Internet]. 2022 [citado 11 Oct 2023]. 36:103222. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668615/#
8. Baron DM, Fenton AR, Saez-Atienzar S, Giampetruzzi A, Sreeram A, Shankaracharya, et al. ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function. Cell Rep [Internet]. 2022 [citado 11 Oct 2023]; 39(1). Disponible en: https://www.cell.com/cell-reports/abstract/S2211-1247(22)00346-1
9. Chen J, Bassot A, Giuliani F, Simmen T. Amyotrophic Lateral Sclerosis (ALS): Stressed by Dysfunctional Mitochondria-Endoplasmic Reticulum Contacts (MERCs). Cells. [Internet]. 2021 [citado 7 Abr 2024]; 10(7):1789. DOI: https://doi.org/10.3390/cells10071789
10. Mentis AFA, Bougea AM, Chrousos GP. Amyotrophic lateral sclerosis (ALS) and the endocrine system: Are there any further ties to be explored? Aging Brain. [Internet]. 2021 [citado 7 Abr 2024]; 1:100024. DOI: https://doi.org/10.1016/j.nbas.2021.100024
11. Nabizadeh F, Balabandian M, Sharafi AM, Ghaderi A, Rostami MR, Naser Moghadasi A. Statins and risk of amyotrophic lateral sclerosis: a systematic review and meta-analysis. Acta Neurol Belg. [Internet]. 2022 [citado 7 Abr 2024]. 122(4):979-86. DOI: https://doi.org/10.1007/s13760-021-01753-8
12. Chiò A, Mazzini L, Mora G. Disease-modifying therapies in amyotrophic lateral sclerosis. Neuropharmacology. [Internet]. 2020[citado 7 Abr 2024]. 167:107986. DOI: https://doi.org/10.1016/j.neuropharm.2020.107986
13. Jiang J, Wang Y, Deng M. New developments and opportunities in drugs being trialed for amyotrophic lateral sclerosis from 2020 to 2022. Front Pharmacol [Internet]. 2022 [citado 8 jul de 2023]; 13. Disponible en: https://www.frontiersin.org/articles/10.3389/fphar.2022.1054006
14. Logroscino G, Urso D, Tortelli R. The challenge of amyotrophic lateral sclerosis descriptive epidemiology: to estimate low incidence rates across complex phenotypes in different geographic areas. Curr Opin Neurol. [Internet]. 2022 [citado 8 jul de 2023]; 35(5): 678–685. DOI: https://doi.org/10.1097/WCO.0000000000001097
15. Martinelli I, Zucchi E, Simonini C, Gianferrari G, Zamboni G, Pinti M, et al. The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis. Neural Regen Res. [Internet]. 2023 [citado 8 jul de 2023]; 18(7):1427. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10075107/
16. Monsour M, Garbuzova-Davis S, Borlongan CV. Patching Up the Permeability: The Role of Stem Cells in Lessening Neurovascular Damage in Amyotrophic Lateral Sclerosis. Stem Cells Transl Med. [Internet]. 2022 [citado 8 jul de 2023]; 11(12):1196-209. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801306/
17. Cha SJ, Kim K. Effects of the Edaravone, a Drug Approved for the Treatment of Amyotrophic Lateral Sclerosis, on Mitochondrial Function and Neuroprotection. Antioxidants. [Internet]. 2022 [citado 8 jul de 2023]; 11(2):195. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8868074/
18. López-Gómez JJ, De Luis-Román DA. Soporte nutricional en el paciente con esclerosis lateral amiotrófica: una revisión sistemática. Nutr Clin EN Med. [Internet]. 2018 [citado 8 jul de 2023]; (1):53-71. Disponible en: http://www.aulamedica.es/nutricionclinicamedicina/pdf/5073.pdf
19. Pugliese R, Sala R, Regondi S, Beltrami B, Lunetta C. Emerging technologies for management of patients with amyotrophic lateral sclerosis: from telehealth to assistive robotics and neural interfaces. J Neurol. [Internet]. 2022 [citado 8 jul de 2023]; 269(6):2910-21. Disponible en: https://link.springer.com/article/10.1007/s00415-022-10971-w
20. Soares Júnior, Gilberto Gomes. Tecnologias habilitadoras da indústria 4.0 aplicadas para melhoria da segurança do trabalho na construção civil. 2021. 103 f. Dissertação (Programa de Pós-Graduação de Mestrado e Doutorado em Engenharia de Produção) - Universidade Nove de Julho, São Paulo. Disponible en: https://bibliotecatede.uninove.br/handle/tede/2805
21. Sousa WSM de, Lopes DC, Silva DAC, Adad AC de M, Ribeiro JP da CM, Deus LRS de, et al. Interface cérebro-máquina: avanços na neurociência e o desenvolvimento de bioeletrodos. Res Soc Dev. [Internet]. 2022 [citado 7 Abr 2024]; 11(12):e489111235046-e489111235046. DOI: http://dx.doi.org/10.33448/rsd-v11i12.35046
22. Demaree D, Brignone J, Bromberg M, Zhang H. Preliminary Study on Effects of Neck Exoskeleton Structural Design in Patients With Amyotrophic Lateral Sclerosis. IEEE transactions on neural systems and rehabilitation engineering: a publication of the IEEE Engineering in Medicine and Biology Society, [Internet]. 2024 [citado 10 jul 2024]. 32, 1841–1850. DOI: https://doi.org/10.1109/TNSRE.2024.3397584
23. Manero AC, McLinden SL, Sparkman J, Oskarsson B. Evaluating surface EMG control of motorized wheelchairs for amyotrophic lateral sclerosis patients. J NeuroEngineering Rehabil. [Internet]. 2021 [citado 7 Abr 2024]; 19(1):88. DOI: https://doi.org/10.1186/s12984-022-01066-8
24. Edughele HO, Zhang Y, Muhammad-Sukki F, Vien QT, Morris-Cafiero H, Opoku Agyeman M. Eye-Tracking Assistive Technologies for Individuals With Amyotrophic Lateral Sclerosis. IEEE Access. [Internet]. 2022 [citado 11 Oct 2023]; 10:41952-72. DOI: https://doi.org/10.1109/ACCESS.2022.3164075
25. Wang Z, Zhang A, Xia X, Zhang S, Li H, Wang J, et al. A Visual Feedback Supported Intelligent Assistive Technique for Amyotrophic Lateral Sclerosis Patients. Adv Intell Syst. [Internet]. 2022 [citado 11 Oct 2023]; 4(4):2100097. DOI: https://doi.org/10.1002/aisy.202100097
26. Nabizadeh F. Biomaterials in The Treatment of Amyotrophic Lateral Sclerosis. Neurol Lett. [Internet]. 2022 [citado 7 Abr 2024]; 1(1):12-6. Disponible en: https://www.neurologyletters.com/article_151620.html
27. Zhou S, Zhou Y, Qian S, Chang W, Wang L, Fan D. Amyotrophic lateral sclerosis in Beijing: Epidemiologic features and prognosis from 2010 to 2015. Brain Behav. [Internet]. 2018 [citado 11 Oct 2023]; 8(11):e01131. DOI: https://doi.org/10.1002/brb3.1131
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2024-07-26
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Acurio Padilla PE, Latorre Barragán MF, Barragán Martínez CE, Palango Chicaiza NM. Diagnóstico y tratamiento de la esclerosis lateral amiotrófica. Rev Inf Cient [Internet]. 26º de julho de 2024 [citado 24º de abril de 2025];103(1 Sup):e4568. Disponível em: https://revinfcientifica.sld.cu/index.php/ric/article/view/4568
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