Motor Nöron Hastalıkları
Özet
Amyotrofik lateral skleroz (ALS) kas güçsüzlüğü, yeti yitimi ve ortalama birkaç yıl içeresinde solunum yetmezliğine bağlı ölüm ile sonuçlanan progresif nörodejeneratif bir hastalıktır. Semptom ve bulgular üst ve alt motor nöron kaybına sekonder gelişir. Öykü ve fizik muayene ile tanı kriterlerini karşılayan, elektrodiagnostik olarak desteklenen, laboratuvar ve radyolojik olarak dışlanamayan hastalar ALS olarak kabul edilir. Hastaların çoğu solunumsal komplikasyonlarından dolayı kaybedilir. Solunumsal komplikasyonları uygun şekilde yönetmeleri çok önemlidir. Non-invaziv ventilasyon (NİV), ALS tedavisinin temel bileşenidir ve sağkalımı artırdığı gösterilmiştir. Trakeostomi ile uzun süreli ventilasyon ALS’li hastalara uygun ortamlarda kabul edilebilir yaşam kalitesi sunar.
Referanslar
Rowland LP. Diagnosis of amyotrophic lateral sclerosis. J NeurolSci.1998;160 Suppl 1:S6-S24. doi:10.1016/s0022-510x(98)00193-2
Chiò A, Calvo A, Moglia C,at al; PARALS study group. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82(7):740-746. doi:10.1136 /jnnp.2010.235952.
Camacho-Soto A, Searles Nielsen S, at al. Incidence of amyotrophic lateral sclerosis in older adults. Muscle Nerve. 2022;66(3):289-296. doi:10.1002/mus.27652.
Bandres-Ciga S, Noyce AJ, Hemani G, et al. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis [published correction appears in Ann Neurol. 2020 Jun;87(6):991-992]. Ann Neurol. 2019;85(4):470-481. doi:10.1002/ana.25431).
Zou ZY, Zhou ZR, Che CH, at al. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2017;88(7):540-549. doi:10.1136/jnnp-2016-315018).
Kim WK, Liu X, Sandner J, et al. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology. 2009;73(20):1686-1692. doi:10.1212/WNL.0b013e3181c1dea3.
Turner MR, Barohn RJ, Corcia P, et al. Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry. 2020;91(4):373-377. doi:10.1136/jnnp-2019-322541.
Couratier P, Truong C, Khalil M, et al. Clinical features of flail arm syndrome. Muscle Nerve. 2000;23(4):646-648.doi:10.1002/(sici)1097-4598(200004)23:4<646: aid-mus26>3.0.co;2-e).
Wijesekera LC, Mathers S, Talman P, et al. Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology. 2009;72(12):1087-1094. doi:10.1212/01.wnl.0000345041.83406.a2.
Ringholz GM, Appel SH, Bradshaw M, at al. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology. 2005;65(4):586-590. doi:10.1212/01.wnl. 0000172911.39167.b6.
Phukan J, Pender NP, Hardiman at al. Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol. 2007;6(11):994-1003. doi:10.1016/S1474-4422(07)70265-X.
Toepfer M, Folwaczny C, Klauser A, et al. Gastrointestinal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 1999;1(1):15-19. doi:10.1080/146608299300079484
Pugdahl K, Fuglsang-Frederiksen A, de Carvalho M, et al. Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study. J Neurol Neurosurg Psychiatry. 2007;78(7):746-749. doi:10.1136/jnnp.2006.098533
Chiò A, Mora G, Lauria G. Pain in amyotrophic lateral sclerosis. Lancet Neurol. 2017;16(2):144-157.doi:10.1016/S1474-4422(16)30358-1.
Chaudhuri KR, Crump S, al-Sarraj S, et al The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: a clinicopathologica lstudy. J NeurolSci. 1995;129 Suppl:11-12. doi:10.1016/0022-510x(95)00050-c.
Boekestein WA, Kleine BU, Hageman G, et al. Sensitivity and specificity of the 'Awaji' electrodiagnostic criteria for amyotrophic lateral sclerosis: retrospective comparison of the Awaji and revised El Escorial criteriafor ALS. Amyotroph Lateral Scler. 2010;11(6):497-501. doi:10.3109/17482961003777462).
Shefner JM, Al-Chalabi A, Baker MR, et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020;131(8):1975-1978. doi:10.1016/j.clinph.2020.04.005.
Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;2012(3):CD001447. Published 2012 Mar 14. doi:10.1002/14651858.CD001447.pub3.
Practice advisory on the treatment of amyotrophic lateral sclerosis with riluzole. Report of Quality Standards Subcommittee of the American Academy of Neurology. Neurology 1997;49:657-659. https://doi.org/10.1212/ WNL.49.3.657.
Shefner J, Heiman-Patterson T, Pioro EP, et al. Long-term edaravone efficacy in amyotrophic lateral sclerosis: Post-hoc analyses of Study 19 (MCI186-19). MuscleNerve. 2020;61(2):218-221. doi:10.1002/mus.26740.
Paganoni S, Hendrix S, Dickson SP, et al. Effect of sodium phenyl butyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial [published online ahead of print, 2022 May 16]. J NeurolNeurosurgPsychiatry. 2022;93(8):871-875. doi:10.1136/jnnp-2022-329024.
Ackrivo J, Hansen-Flaschen J, Wileyto EP, et al. Development of a prognostic model of respiratory insufficiency or death in amyotrophic lateral sclerosis. Eur Respir J. 2019;53(4):1802237. Published 2019 Apr 18. doi:10.1183/13993003.02237-2018.
Van den Berg JP, Kalmijn S, Lindeman E, et al. Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology. 2005;65(8):12641267.doi:10.1212/01.wnl.0000180717.29273.12.
Brown RH, Al-Chalabi A. Amyotrophic Lateral Sclerosis. N Engl J Med. 2017;377(2):162-172. doi:10.1056/NEJMra1603471.
Just N, Bautin N, Danel-Brunaud V, at al T. The Borg dyspnoea score: a relevant clinical marker of inspiratory muscle weakness in amyotrophic lateral sclerosis. Eur Respir J. 2010;35(2):353-360. doi:10.1183/09031936.00184908
Miller RG, Jackson CE, Kasarskis EJ, et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology [published correction appears in Neurology. 2009 Dec 15;73(24):2134] [published correction appears in Neurology. 2010 Mar 2;74(9):781]. Neurology.2009;73(15):1218-1226. doi: 10.1212/ WNL. 0b013e3181bc0141
Lechtzin N, Wiener CM, Shade DM, et al. Spirometry in the supine position improves the detection of diaphragmatic weakness in patients with amyotrophic lateral sclerosis. Chest 2002;121(2):436–42. doi:10.1378/chest.121.2.436
Lechtzin N, Scott Y, Busse AM, et al. Earlyuse of non-invasive ventilation prolongs survival in subjects with ALS. Amyotroph Lateral Scler 2007;8(3):185–8.
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis, Andersen PM, Abrahams S, Borasio GD, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)–revised report of an EFNS task force. Eur J Neurol 2012;19(3):360–75).
De Troyer A, Borenstein S, Cordier R. Analysis of lung volume restriction in patients with respiratory muscle weakness. Thorax 1980;35(8):603–10.
Polkey MI, Lyall RA, Yang K, et al. Respiratory muscle strength as a predictive biomarker for survival in amyotrophic lateral sclerosis. Am J Respir Crit Care Med 2017;195(1):86–95.
Sferrazza Papa GF, Pellegrino GM, DiMarco F, et al. Predicting survival in amyotrophic lateral sclerosis: should we move forward from vitalc apacity? Am J Respir Crit Care Med 2017;195(1):144–5.
Bourke SC, Bullock RE, Williams TL, at al. Non invasive ventilation in ALS: indications and effect on quality of life. Neurology. 2003;61(2):171-177.
Lo Coco D, Mattaliano P, Spataro R, et al. Sleep wake disturbances in patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2011;82(8):839–42.
Arnulf I, Similowski T, Salachas F, et al. Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis. Am J Respi Crit Care Med 2000;161(3 Pt 1):849–56
Elman LB, Siderowf AD, McCluskey LF. Nocturnal oximetry: utility in the respiratory management of amyotrophic lateral sclerosis. Am J Phys Med Rehabil. 2003;82(11):866-870. doi:10.1097/01.PHM.0000091985.22659.30
Ahmed RM, Newcombe RE, Piper AJ, et al. Sleep disorders and respiratory function in amyotrophic lateral sclerosis. Sleep Med Rev 2016;26: 33–42.
Morrow B, Zampoli M, van Aswegen H, et al. Mechanical insufflation-exsufflation for people with neuromuscular disorders. Cochrane Database SystRev. 2013;(12):CD010044.).
Bond L, Ganguly P, Khamankar N, et al. A Comprehensive Examination of Percutaneous Endoscopic Gastrostomy and Its Association with Amyotrophic Lateral Sclerosis Patient Outcomes. Brain Sci.2019;9(9):223. Published 2019 Sep 4. doi:10.3390/brainsci9090223).
Nicholson K, Murphy A, Mc Donnell E, et al. Improving symptom management for people with amyotrophic lateral sclerosis. Muscle Nerve. 2018;57(1):20-24. doi:10.1002/mus.25712.
Gibbons C, Pagnini F, Friede T, at al. Treatment of fatigue in amyotrophic lateral sclerosis/motor neurondisease. Cochrane Database SystRev. 2018;1(1):CD011005. Published 2018 Jan 2. doi:10.1002/14651858.CD011005.pub2.
Oskarsson B, Moore D, Mozaffar T, et al. Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind cross overtrial [published online ahead of print, 2018 Mar 6]. MuscleNerve. 2018;10.1002/mus.26117. doi:10.1002/mus.26117.
Chou R, Peterson K, Helfand M. Comparative efficacy and safety of skeletal muscle relaxants for spasticity and musculoskeletal conditions: a systematicr eview. J Pain Symptom Manage. 2004;28(2):140-175. doi:10.1016/j.jpainsymman. 2004.05.002.
Rosen HJ, Cummings J. A real reason for patients with pseudobulbar affect to smile. Ann Neurol. 2007;61(2):92-96. doi:10.1002/ana.21056.
Gallagher JP. Pathologic laughter and crying in ALS: a search fort heir origin. Acta Neurol Scand. 1989;80(2):114-117. doi:10.1111/j.1600-0404.1989.tb03851.x
Brooks BR, Thisted RA, Appel SH, et al. Treatment of pseudobulba raffect in ALS with dextromethorphan/quinidine: a randomize dtrial. Neurology. 2004;63(8):1364-1370.doi:10.1212/01.wnl.0000142042.50528.2f.
Referanslar
Rowland LP. Diagnosis of amyotrophic lateral sclerosis. J NeurolSci.1998;160 Suppl 1:S6-S24. doi:10.1016/s0022-510x(98)00193-2
Chiò A, Calvo A, Moglia C,at al; PARALS study group. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry. 2011;82(7):740-746. doi:10.1136 /jnnp.2010.235952.
Camacho-Soto A, Searles Nielsen S, at al. Incidence of amyotrophic lateral sclerosis in older adults. Muscle Nerve. 2022;66(3):289-296. doi:10.1002/mus.27652.
Bandres-Ciga S, Noyce AJ, Hemani G, et al. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis [published correction appears in Ann Neurol. 2020 Jun;87(6):991-992]. Ann Neurol. 2019;85(4):470-481. doi:10.1002/ana.25431).
Zou ZY, Zhou ZR, Che CH, at al. Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2017;88(7):540-549. doi:10.1136/jnnp-2016-315018).
Kim WK, Liu X, Sandner J, et al. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology. 2009;73(20):1686-1692. doi:10.1212/WNL.0b013e3181c1dea3.
Turner MR, Barohn RJ, Corcia P, et al. Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry. 2020;91(4):373-377. doi:10.1136/jnnp-2019-322541.
Couratier P, Truong C, Khalil M, et al. Clinical features of flail arm syndrome. Muscle Nerve. 2000;23(4):646-648.doi:10.1002/(sici)1097-4598(200004)23:4<646: aid-mus26>3.0.co;2-e).
Wijesekera LC, Mathers S, Talman P, et al. Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology. 2009;72(12):1087-1094. doi:10.1212/01.wnl.0000345041.83406.a2.
Ringholz GM, Appel SH, Bradshaw M, at al. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology. 2005;65(4):586-590. doi:10.1212/01.wnl. 0000172911.39167.b6.
Phukan J, Pender NP, Hardiman at al. Cognitive impairment in amyotrophic lateral sclerosis. Lancet Neurol. 2007;6(11):994-1003. doi:10.1016/S1474-4422(07)70265-X.
Toepfer M, Folwaczny C, Klauser A, et al. Gastrointestinal dysfunction in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 1999;1(1):15-19. doi:10.1080/146608299300079484
Pugdahl K, Fuglsang-Frederiksen A, de Carvalho M, et al. Generalised sensory system abnormalities in amyotrophic lateral sclerosis: a European multicentre study. J Neurol Neurosurg Psychiatry. 2007;78(7):746-749. doi:10.1136/jnnp.2006.098533
Chiò A, Mora G, Lauria G. Pain in amyotrophic lateral sclerosis. Lancet Neurol. 2017;16(2):144-157.doi:10.1016/S1474-4422(16)30358-1.
Chaudhuri KR, Crump S, al-Sarraj S, et al The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: a clinicopathologica lstudy. J NeurolSci. 1995;129 Suppl:11-12. doi:10.1016/0022-510x(95)00050-c.
Boekestein WA, Kleine BU, Hageman G, et al. Sensitivity and specificity of the 'Awaji' electrodiagnostic criteria for amyotrophic lateral sclerosis: retrospective comparison of the Awaji and revised El Escorial criteriafor ALS. Amyotroph Lateral Scler. 2010;11(6):497-501. doi:10.3109/17482961003777462).
Shefner JM, Al-Chalabi A, Baker MR, et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020;131(8):1975-1978. doi:10.1016/j.clinph.2020.04.005.
Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;2012(3):CD001447. Published 2012 Mar 14. doi:10.1002/14651858.CD001447.pub3.
Practice advisory on the treatment of amyotrophic lateral sclerosis with riluzole. Report of Quality Standards Subcommittee of the American Academy of Neurology. Neurology 1997;49:657-659. https://doi.org/10.1212/ WNL.49.3.657.
Shefner J, Heiman-Patterson T, Pioro EP, et al. Long-term edaravone efficacy in amyotrophic lateral sclerosis: Post-hoc analyses of Study 19 (MCI186-19). MuscleNerve. 2020;61(2):218-221. doi:10.1002/mus.26740.
Paganoni S, Hendrix S, Dickson SP, et al. Effect of sodium phenyl butyrate/taurursodiol on tracheostomy/ventilation-free survival and hospitalisation in amyotrophic lateral sclerosis: long-term results from the CENTAUR trial [published online ahead of print, 2022 May 16]. J NeurolNeurosurgPsychiatry. 2022;93(8):871-875. doi:10.1136/jnnp-2022-329024.
Ackrivo J, Hansen-Flaschen J, Wileyto EP, et al. Development of a prognostic model of respiratory insufficiency or death in amyotrophic lateral sclerosis. Eur Respir J. 2019;53(4):1802237. Published 2019 Apr 18. doi:10.1183/13993003.02237-2018.
Van den Berg JP, Kalmijn S, Lindeman E, et al. Multidisciplinary ALS care improves quality of life in patients with ALS. Neurology. 2005;65(8):12641267.doi:10.1212/01.wnl.0000180717.29273.12.
Brown RH, Al-Chalabi A. Amyotrophic Lateral Sclerosis. N Engl J Med. 2017;377(2):162-172. doi:10.1056/NEJMra1603471.
Just N, Bautin N, Danel-Brunaud V, at al T. The Borg dyspnoea score: a relevant clinical marker of inspiratory muscle weakness in amyotrophic lateral sclerosis. Eur Respir J. 2010;35(2):353-360. doi:10.1183/09031936.00184908
Miller RG, Jackson CE, Kasarskis EJ, et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology [published correction appears in Neurology. 2009 Dec 15;73(24):2134] [published correction appears in Neurology. 2010 Mar 2;74(9):781]. Neurology.2009;73(15):1218-1226. doi: 10.1212/ WNL. 0b013e3181bc0141
Lechtzin N, Wiener CM, Shade DM, et al. Spirometry in the supine position improves the detection of diaphragmatic weakness in patients with amyotrophic lateral sclerosis. Chest 2002;121(2):436–42. doi:10.1378/chest.121.2.436
Lechtzin N, Scott Y, Busse AM, et al. Earlyuse of non-invasive ventilation prolongs survival in subjects with ALS. Amyotroph Lateral Scler 2007;8(3):185–8.
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis, Andersen PM, Abrahams S, Borasio GD, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)–revised report of an EFNS task force. Eur J Neurol 2012;19(3):360–75).
De Troyer A, Borenstein S, Cordier R. Analysis of lung volume restriction in patients with respiratory muscle weakness. Thorax 1980;35(8):603–10.
Polkey MI, Lyall RA, Yang K, et al. Respiratory muscle strength as a predictive biomarker for survival in amyotrophic lateral sclerosis. Am J Respir Crit Care Med 2017;195(1):86–95.
Sferrazza Papa GF, Pellegrino GM, DiMarco F, et al. Predicting survival in amyotrophic lateral sclerosis: should we move forward from vitalc apacity? Am J Respir Crit Care Med 2017;195(1):144–5.
Bourke SC, Bullock RE, Williams TL, at al. Non invasive ventilation in ALS: indications and effect on quality of life. Neurology. 2003;61(2):171-177.
Lo Coco D, Mattaliano P, Spataro R, et al. Sleep wake disturbances in patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 2011;82(8):839–42.
Arnulf I, Similowski T, Salachas F, et al. Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis. Am J Respi Crit Care Med 2000;161(3 Pt 1):849–56
Elman LB, Siderowf AD, McCluskey LF. Nocturnal oximetry: utility in the respiratory management of amyotrophic lateral sclerosis. Am J Phys Med Rehabil. 2003;82(11):866-870. doi:10.1097/01.PHM.0000091985.22659.30
Ahmed RM, Newcombe RE, Piper AJ, et al. Sleep disorders and respiratory function in amyotrophic lateral sclerosis. Sleep Med Rev 2016;26: 33–42.
Morrow B, Zampoli M, van Aswegen H, et al. Mechanical insufflation-exsufflation for people with neuromuscular disorders. Cochrane Database SystRev. 2013;(12):CD010044.).
Bond L, Ganguly P, Khamankar N, et al. A Comprehensive Examination of Percutaneous Endoscopic Gastrostomy and Its Association with Amyotrophic Lateral Sclerosis Patient Outcomes. Brain Sci.2019;9(9):223. Published 2019 Sep 4. doi:10.3390/brainsci9090223).
Nicholson K, Murphy A, Mc Donnell E, et al. Improving symptom management for people with amyotrophic lateral sclerosis. Muscle Nerve. 2018;57(1):20-24. doi:10.1002/mus.25712.
Gibbons C, Pagnini F, Friede T, at al. Treatment of fatigue in amyotrophic lateral sclerosis/motor neurondisease. Cochrane Database SystRev. 2018;1(1):CD011005. Published 2018 Jan 2. doi:10.1002/14651858.CD011005.pub2.
Oskarsson B, Moore D, Mozaffar T, et al. Mexiletine for muscle cramps in amyotrophic lateral sclerosis: A randomized, double-blind cross overtrial [published online ahead of print, 2018 Mar 6]. MuscleNerve. 2018;10.1002/mus.26117. doi:10.1002/mus.26117.
Chou R, Peterson K, Helfand M. Comparative efficacy and safety of skeletal muscle relaxants for spasticity and musculoskeletal conditions: a systematicr eview. J Pain Symptom Manage. 2004;28(2):140-175. doi:10.1016/j.jpainsymman. 2004.05.002.
Rosen HJ, Cummings J. A real reason for patients with pseudobulbar affect to smile. Ann Neurol. 2007;61(2):92-96. doi:10.1002/ana.21056.
Gallagher JP. Pathologic laughter and crying in ALS: a search fort heir origin. Acta Neurol Scand. 1989;80(2):114-117. doi:10.1111/j.1600-0404.1989.tb03851.x
Brooks BR, Thisted RA, Appel SH, et al. Treatment of pseudobulba raffect in ALS with dextromethorphan/quinidine: a randomize dtrial. Neurology. 2004;63(8):1364-1370.doi:10.1212/01.wnl.0000142042.50528.2f.
