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Alterations in the Masticatory System in Patients with Amyotrophic Lateral Sclerosis and Its Management with an Oral Appliance

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Alterations in the Masticatory System in Patients with Amyotrophic Lateral Sclerosis and Its Management with an Oral Appliance Alterations in the masticatory system in patients with amyotrophic lateral sclerosis and its management with an oral appliance Nina Riera Puñet ADVERTIMENT. La consulta d’aquesta tesi queda condicionada a l’acceptació de les següents condicions d'ús: La difusió d’aquesta tesi per mitjà del servei TDX (www.tdx.cat) i a través del Dipòsit Digital de la UB (diposit.ub.edu) ha estat autoritzada pels titulars dels drets de propietat intel·lectual únicament per a usos privats emmarcats en activitats d’investigació i docència. No s’autoritza la seva reproducció amb finalitats de lucre ni la seva difusió i posada a disposició des d’un lloc aliè al servei TDX ni al Dipòsit Digital de la UB. No s’autoritza la presentació del seu contingut en una finestra o marc aliè a TDX o al Dipòsit Digital de la UB (framing). Aquesta reserva de drets afecta tant al resum de presentació de la tesi com als seus continguts. En la utilització o cita de parts de la tesi és obligat indicar el nom de la persona autora. ADVERTENCIA. La consulta de esta tesis queda condicionada a la aceptación de las siguientes condiciones de uso: La difusión de esta tesis por medio del servicio TDR (www.tdx.cat) y a través del Repositorio Digital de la UB (diposit.ub.edu) ha sido autorizada por los titulares de los derechos de propiedad intelectual únicamente para usos privados enmarcados en actividades de investigación y docencia. No se autoriza su reproducción con finalidades de lucro ni su difusión y puesta a disposición desde un sitio ajeno al servicio TDR o al Repositorio Digital de la UB. No se autoriza la presentación de su contenido en una ventana o marco ajeno a TDR o al Repositorio Digital de la UB (framing). Esta reserva de derechos afecta tanto al resumen de presentación de la tesis como a sus contenidos. En la utilización o cita de partes de la tesis es obligado indicar el nombre de la persona autora. WARNING. On having consulted this thesis you’re accepting the following use conditions: Spreading this thesis by the TDX (www.tdx.cat) service and by the UB Digital Repository (diposit.ub.edu) has been authorized by the titular of the intellectual property rights only for private uses placed in investigation and teaching activities. Reproduction with lucrative aims is not authorized nor its spreading and availability from a site foreign to the TDX service or to the UB Digital Repository. Introducing its content in a window or frame foreign to the TDX service or to the UB Digital Repository is not authorized (framing). Those rights affect to the presentation summary of the thesis as well as to its contents. In the using or citation of parts of the thesis it’s obliged to indicate the name of the author. Alterations in the masticatory system in patients with amyotrophic lateral sclerosis and its management with an oral appliance DOCTORAL THESIS Nina Riera Puñet Barcelona, 2019 ALTERATIONS IN THE MASTICATORY SYSTEM IN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS AND ITS MANAGEMENT WITH AN ORAL APPLIANCE Thesis presented by Nina Riera Puñet To obtain the degree of Doctor by the University of Barcelona Supervised by: Jordi Martínez Gomis Maria Peraire Ardèvol Doctoral Program in Medicine and Translational Research Faculty of Medicine and Health Sciences, University of Barcelona “Remember to look up at the stars and not down at your feet. Try to make sense of what you see and wonder about what makes the universe exist. Be curious. And however difficult life may seem, there is always something you can do and succeed at. It matters that you don't just give up.” Stephen Hawking (1942-2018) ACKNOWLEDGMENTS This thesis would not have been possible without the support of many people, and I would like to take this opportunity to thank them all. Firstly, I owe my deepest gratitude to my supervisors. To Jordi Martínez Gomis, I offer my sincere appreciation for your patience, motivation, and immense knowledge. Without your hard work, scientific assistance and attention to detail, this study would not have been completed. To Maria Peraire Ardèvol, who suggested this topic to me: thank you for your untiring support and guidance throughout this project and for your advice during these years. To you both, I would like to say that it was a great honour to finish this work under your joint supervision. I am highly indebted to all the members of the professional team at the Amyotrophic Lateral Sclerosis Unit at Bellvitge University Hospital for providing me with information for my research and for making me feel like an integral part of their team. Special thanks go to Dr. Monica Povedano, for enabling me to carry out this work at her department and also for her support throughout this study. I would like to give my heartfelt thanks to all the patients with Amyotrophic Lateral Sclerosis who took part in this study. Thank you all for sharing your time with me and for your cheerful smiles. I gratefully acknowledge the funding received for my PhD through the University of Barcelona. I thank the editors of the journals Barry J. Sessle PhD, Peter Svensson DDS PhD and Stephen F Rosenstiel BDS MSD, who took the time to evaluate my work. Lastly, I would like to acknowledge the support and love of all my family and friends. To my parents, thank you for believing in me and for supporting all my pursuits. Also to my brothers and sister for encouraging me throughout. I sincerely thank all my friends for their support, and finally my boyfriend for his advice and for being by my side in the hard times. They are the most important people in my world and I dedicate this thesis to them. INDEX ABBREVIATIONS ........................................................................................................ 11 ABSTRACT .................................................................................................................. 13 1. INTRODUCTION ................................................................................................... 17 1.1 Definition of the disease ........................................................................... 19 1.2 Epidemiology and molecular genetics ...................................................... 20 1.3 Clinical presentations ................................................................................ 21 1.4 Diagnosis ................................................................................................... 22 1.4.1 Diagnostic tests .................................................................................. 23 1.4.1.1 Laboratory testing ................................................................ 23 1.4.1.2 Electrodiagnostic studies ..................................................... 23 1.4.1.3 Genetic testing ..................................................................... 24 1.4.1.4 Neuroimaging studies .......................................................... 24 1.4.2 Diagnostic criteria .............................................................................. 24 1.5 Management of ALS patients .................................................................... 27 1.5.1 Medical treatment ........................................................................... 28 1.5.2 Multidisciplinary approach .............................................................. 28 1.5.2.1 Physical management .......................................................... 29 1.5.2.2 Nutritional therapy .............................................................. 29 1.5.2.3 Respiratory management .................................................... 30 1.6 Alterations in the stomatognathic system…………………………………………… . 31 1.6.1 Dysarthria ..................................................................................... 31 1.6.2 Dysphagia ..................................................................................... 32 1.6.3 Weakness of bulbar muscles ....................................................... 32 1.6.4 Jaw quivering and clenching ........................................................ 33 1.7 The role of the dentist in ALS .................................................................... 33 2. OBJECTIVES .......................................................................................................... 35 3. HYPOTHESIS ........................................................................................................ 39 4. PUBLICATIONS ..................................................................................................... 43 4.1. Study I .......................................................................................................... 45 4.2. Study II ........................................................................................................ 61 4.3. Study III ....................................................................................................... 77 5. DISCUSSION ......................................................................................................... 93 6. CONCLUSIONS ..................................................................................................... 103 REFERENCES .............................................................................................................. 107 APPENDIX .................................................................................................................. 121 Study I .................................................................................................................. 123 - License of reproduction ................................................................................
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