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Neuromuscular Diseases

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Neuropalliative Care

Abstract

Neuromuscular diseases are a group of disorders affecting either central motor neurons, the neuronal pathways, the muscles themselves or a combination of those. These diseases are marked by progressive disability due to muscle weakness. Motor neuron disease, particularly amyotrophic lateral sclerosis (ALS), is a progressive and incurable neurologic condition. The treatment is primarily palliative in nature with a focus on maintaining communication and optimizing function. Given the high symptom burden associated with the disease, pharmacologic and nonpharmacologic management is provided to improve overall quality of life. As the disease progresses, functional decline is anticipated and cognitive dysfunction may also occur. Therefore, establishing goals of care early in the disease process is critical to ensure that the goals are aligned with the available treatment options. Challenging discussions regarding end-of-life care and advance care planning are recommended throughout the course of disease and certain triggers may prompt these conversations at specific time points. At the end of life, some patients may decide to transition to comfort care through hospice services, which offer support to the patient and the caregiver. The provision of palliative care for motor neuron disease requires a clinician to understand the disease trajectory, anticipate symptoms, ease suffering, and clarify the patient’s goals. More research is necessary to determine the optimal platform for the delivery of palliative care in this patient population.

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References

  1. Tiryaki E, Horak HA. ALS and other motor neuron diseases. Continuum (Minneapolis, Minn). 2014;20(5 Peripheral Nervous System Disorders):1185–207.

    Google Scholar 

  2. Ganzini L, Johnston WS, Silveira MJ. The final month of life in patients with ALS. Neurology. 2002;59(3):428–31.

    Article  PubMed  Google Scholar 

  3. Blackhall LJ. Amyotrophic lateral sclerosis and palliative care: where we are, and the road ahead. Muscle Nerve. 2012;45(3):311–8.

    Article  PubMed  Google Scholar 

  4. Rechtman L, Jordan H, Wagner L, Horton DK, Kaye W. Racial and ethnic differences among amyotrophic lateral sclerosis cases in the United States. Amyotroph Lateral Scler Frontotemporal Degeneration. 2015;16(1–2):65–71.

    Article  Google Scholar 

  5. Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Mot Neuron Disord : Off Publ World Fed Neurol, Res Group Mot Neuron Dis. 2000;1(5):293–9.

    Article  CAS  Google Scholar 

  6. Ahmed A, Simmons Z. Pseudobulbar affect: prevalence and management. Ther Clin Risk Manag. 2013;9:483–9.

    PubMed  PubMed Central  Google Scholar 

  7. Woolley SC, Strong MJ. Frontotemporal dysfunction and dementia in amyotrophic lateral sclerosis. Neurol Clin. 2015;33(4):787–805.

    Article  PubMed  Google Scholar 

  8. Rooney J, Byrne S, Heverin M, et al. Survival analysis of irish amyotrophic lateral sclerosis patients diagnosed from 1995–2010. PLoS One. 2013;8(9):e74733.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Magnus T, Beck M, Giess R, Puls I, Naumann M, Toyka KV. Disease progression in amyotrophic lateral sclerosis: predictors of survival. Muscle Nerve. 2002;25(5):709–14.

    Article  CAS  PubMed  Google Scholar 

  10. Chio A, Logroscino G, Hardiman O, et al. Prognostic factors in ALS: A critical review. Amyotroph Lateral Scler : Off Publ World Fed Neurol Res Group Mot Neuron Dis. 2009;10(5–6):310–23.

    Article  Google Scholar 

  11. Moura MC, Novaes MR, Eduardo EJ, Zago YS, Freitas Rdel N, Casulari LA. Prognostic factors in amyotrophic lateral sclerosis: a population-based study. PLoS One. 2015;10(10):e0141500.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  12. Cedarbaum JM, Stambler N. Performance of the amyotrophic lateral sclerosis functional rating scale (ALSFRS) in multicenter clinical trials. J Neurol Sci. 1997;152(Suppl 1):S1–9.

    Article  PubMed  Google Scholar 

  13. Cedarbaum JM, Stambler N, Malta E, et al. The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci. 1999;169(1–2):13–21.

    Article  CAS  PubMed  Google Scholar 

  14. Castrillo-Viguera C, Grasso DL, Simpson E, Shefner J, Cudkowicz ME. Clinical significance in the change of decline in ALSFRS-R. Amyotroph Lateral Scler : Off Publ World Fed Neurol Res Group Mot Neuron Dis. 2010;11(1–2):178–80.

    Article  Google Scholar 

  15. Miller RG, Mitchell JD, Moore DH. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev. 2012;(3):CD001447.

    Google Scholar 

  16. Miller RG, Brooks BR, Swain-Eng RJ, et al. Quality improvement in neurology: amyotrophic lateral sclerosis quality measures: report of the quality measurement and reporting subcommittee of the American Academy of Neurology. Neurology. 2013;81(24):2136–40.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Sawada H. Clinical efficacy of edaravone for the treatment of amyotrophic lateral sclerosis. Expert Opin Pharmacother. 2017;18(7):735–8.

    Article  CAS  PubMed  Google Scholar 

  18. Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. Writing Group; Edaravone (MCI-186) ALS 19 Study Group 2017;16(7):505–12.

    Google Scholar 

  19. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012;46(1):1–12.

    Article  PubMed  Google Scholar 

  20. Darras BT. Spinal muscular atrophies. Pediatr Clin N Am. 2015;62(3):743–66.

    Article  Google Scholar 

  21. D’Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6:71.

    Article  PubMed  PubMed Central  Google Scholar 

  22. Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord : NMD. 1994;4(5–6):497–502.

    Article  CAS  PubMed  Google Scholar 

  23. Farrar MA, Vucic S, Johnston HM, du Sart D, Kiernan MC. Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatr. 2013;162(1):155–9.

    Article  PubMed  Google Scholar 

  24. Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004;114(5):e548–53.

    Article  PubMed  Google Scholar 

  25. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52(5):518–23.

    Article  CAS  PubMed  Google Scholar 

  26. Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377(18):1723–32.

    Article  CAS  PubMed  Google Scholar 

  27. Flanigan KM. Duchenne and Becker muscular dystrophies. Neurol Clin. 2014;32(3):671–688, viii.

    Article  PubMed  Google Scholar 

  28. Wein N, Alfano L, Flanigan KM. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. Pediatr Clin N Am. 2015;62(3):723–42.

    Article  Google Scholar 

  29. Passamano L, Taglia A, Palladino A, et al. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myologica : Myopathies Cardiomyopathies : Off J Mediterr Soc Myology. 2012;31(2):121–5.

    Google Scholar 

  30. Angelini C. The role of corticosteroids in muscular dystrophy: a critical appraisal. Muscle Nerve. 2007;36(4):424–35.

    Article  CAS  PubMed  Google Scholar 

  31. Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the guideline development subcommittee of the American Academy of Neurology. Neurology. 2016;86(5):465–72.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Bonifati MD, Ruzza G, Bonometto P, et al. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve. 2000;23(9):1344–7.

    Article  CAS  PubMed  Google Scholar 

  33. Lim KR, Maruyama R, Yokota T. Eteplirsen in the treatment of Duchenne muscular dystrophy. Drug Des Devel Ther. 2017;11:533–45.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Creutzfeldt CJ, Robinson MT, Holloway RG. Neurologists as primary palliative care providers: communication and practice approaches. Neurol Clin Pract. 2016;6(1):40–8.

    Article  PubMed  PubMed Central  Google Scholar 

  35. Levi BH, Simmons Z, Hanna C, et al. Advance care planning for patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degeneration. 2017;18(5–6):388–96.

    Article  Google Scholar 

  36. Spataro R, Ficano L, Piccoli F, La Bella V. Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: effect on survival. J Neurol Sci. 2011;304(1–2):44–8.

    Article  PubMed  Google Scholar 

  37. Katzberg HD, Benatar M, et al. Cochrane Database Syst Rev. 2011;1:Cd004030.

    Google Scholar 

  38. Ng L, Khan F, Young CA, Galea M. Symptomatic treatments for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2017;1:Cd011776.

    PubMed  Google Scholar 

  39. Oliver D. The quality of care and symptom control–the effects on the terminal phase of ALS/MND. J Neurol Sci. 1996;139(Suppl):134–6.

    Article  PubMed  Google Scholar 

  40. 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. Neurology. 2009;73(15):1218–26.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  41. Bourke SC, Tomlinson M, Williams TL, Bullock RE, Shaw PJ, Gibson GJ. Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial. Lancet Neurol. 2006;5(2):140–7.

    Article  PubMed  Google Scholar 

  42. Arnulf I, Similowski T, Salachas F, et al. Sleep disorders and diaphragmatic function in patients with amyotrophic lateral sclerosis. Am J Respir Crit Care Med. 2000;161(3 Pt 1):849–56.

    Article  CAS  PubMed  Google Scholar 

  43. Clemens KE, Klaschik E. Morphine in the management of dyspnoea in ALS. A pilot study. Eur J Neurol. 2008;15(5):445–50.

    Article  CAS  PubMed  Google Scholar 

  44. Rabkin J, Ogino M, Goetz R, et al. Tracheostomy with invasive ventilation for ALS patients: neurologists’ roles in the US and Japan. Amyotroph Lateral Scler Frontotemporal Degeneration. 2013;14(2):116–23.

    Article  Google Scholar 

  45. Miller RG, Jackson CE, Kasarskis EJ, et al. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology. Neurology. 2009;73(15):1227–33.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  46. McCullagh S, Moore M, Gawel M, Feinstein A. Pathological laughing and crying in amyotrophic lateral sclerosis: an association with prefrontal cognitive dysfunction. J Neurol Sci. 1999;169(1–2):43–8.

    Article  CAS  PubMed  Google Scholar 

  47. Brooks BR, Thisted RA, Appel SH, et al. Treatment of pseudobulbar affect in ALS with dextromethorphan/quinidine: a randomized trial. Neurology. 2004;63(8):1364–70.

    Article  CAS  PubMed  Google Scholar 

  48. Atassi N, Cook A, Pineda CM, Yerramilli-Rao P, Pulley D, Cudkowicz M. Depression in amyotrophic lateral sclerosis. Amyotroph Lateral Scler : Off Publ World Fed Neurol Res Group Mot Neuron Dis. 2011;12(2):109–12.

    Article  Google Scholar 

  49. Roos E, Mariosa D, Ingre C, et al. Depression in amyotrophic lateral sclerosis. Neurology. 2016;86(24):2271–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  50. Kurt A, Nijboer F, Matuz T, Kubler A. Depression and anxiety in individuals with amyotrophic lateral sclerosis: epidemiology and management. CNS Drugs. 2007;21(4):279–91.

    Article  PubMed  Google Scholar 

  51. Chio A, Mora G, Lauria G. Pain in amyotrophic lateral sclerosis. Lancet Neurol. 2017;16(2):144–57.

    Article  PubMed  Google Scholar 

  52. Brettschneider J, Kurent J, Ludolph A, Mitchell JD. Drug therapy for pain in amyotrophic lateral sclerosis or motor neuron disease. Cochrane Database Syst Rev. 2008;3:Cd005226.

    Google Scholar 

  53. Hanisch F, Skudlarek A, Berndt J, Kornhuber ME. Characteristics of pain in amyotrophic lateral sclerosis. Brain Behav. 2015;5(3):e00296.

    Article  PubMed  PubMed Central  Google Scholar 

  54. Chio A, Canosa A, Gallo S, et al. Pain in amyotrophic lateral sclerosis: a population-based controlled study. Eur J Neurol. 2012;19(4):551–5.

    Article  CAS  PubMed  Google Scholar 

  55. Stephens HE, Joyce NC, Oskarsson B. National study of muscle cramps in ALS in the USA. Amyotroph Lateral Scler Frontotemporal Degeneration. 2017;18(1–2):32–6.

    Article  Google Scholar 

  56. Baldinger R, Katzberg HD, Weber M. Treatment for cramps in amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2012;4:Cd004157.

    Google Scholar 

  57. Weiss MD, Macklin EA, Simmons Z, et al. A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression. Neurology. 2016;86(16):1474–81.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  58. Tomik B, Guiloff RJ. Dysarthria in amyotrophic lateral sclerosis: a review. Amyotroph Lateral Scler : Off Publ World Fed Neurol Res Group Mot Neuron Dis. 2010;11(1–2):4–15.

    Article  CAS  Google Scholar 

  59. Murphy J. Communication strategies of people with ALS and their partners. Amyotroph Lateral Scler Other Mot Neuron Disord : Off Publ World Fed Neurol, Res Group Mot Neuron Dis. 2004;5(2):121–6.

    Article  Google Scholar 

  60. Blischak D, Lombardino L, Dyson A. Use of speech-generating devices: in support of natural speech. Augmentative Altern Commun (Baltimore, Md : 1985). 2003;19(1):29–35.

    Article  Google Scholar 

  61. Jackson CE, McVey AL, Rudnicki S, Dimachkie MM, Barohn RJ. Symptom management and end-of-life care in amyotrophic lateral sclerosis. Neurol Clin. 2015;33(4):889–908.

    Article  PubMed  PubMed Central  Google Scholar 

  62. Gibbons CJ, Thornton EW, Young CA. The patient experience of fatigue in motor neurone disease. Front Psychol. 2013;4:788.

    Article  PubMed  PubMed Central  Google Scholar 

  63. Jackson CE, Gronseth G, Rosenfeld J, et al. Randomized double-blind study of botulinum toxin type B for sialorrhea in ALS patients. Muscle Nerve. 2009;39(2):137–43.

    Article  CAS  PubMed  Google Scholar 

  64. Lipp A, Trottenberg T, Schink T, Kupsch A, Arnold G. A randomized trial of botulinum toxin A for treatment of drooling. Neurology. 2003;61(9):1279–81.

    Article  CAS  PubMed  Google Scholar 

  65. Andersen PM, Gronberg H, Franzen L, Funegard U. External radiation of the parotid glands significantly reduces drooling in patients with motor neurone disease with bulbar paresis. J Neurol Sci. 2001;191(1–2):111–4.

    Article  CAS  PubMed  Google Scholar 

  66. Bourry N, Guy N, Achard JL, Verrelle P, Clavelou P, Lapeyre M. Salivary glands radiotherapy to reduce sialorrhea in amyotrophic lateral sclerosis: dose and energy. Cancer Radiother : J Soc Fr Radiother Oncologique. 2013;17(3):191–5.

    Article  CAS  Google Scholar 

  67. National Institute for Health and Care Excellence. Motor neurone disease: assessment and management https://www.nice.org.uk/guidance/NG42/chapter/Recommendations-planning-for-end-of-life. Accessed 1 Dec 2017.

  68. Connolly S, Galvin M, Hardiman O. End-of-life management in patients with amyotrophic lateral sclerosis. Lancet Neurol. 2015;14(4):435–42.

    Article  PubMed  Google Scholar 

  69. Blanke C, LeBlanc M, Hershman D, Ellis L, Meyskens F. Characterizing 18 years of the death with dignity act in Oregon. JAMA Oncol. 2017;3(10):1403–6.

    Article  PubMed  PubMed Central  Google Scholar 

  70. Tripodoro VA, De Vito EL. What does end stage in neuromuscular diseases mean? Key approach-based transitions. Curr Opin Support Palliat Care. 2015;9(4):361–8.

    Article  PubMed  Google Scholar 

  71. Chio A, Gauthier A, Calvo A, Ghiglione P, Mutani R. Caregiver burden and patients’ perception of being a burden in ALS. Neurology. 2005;64(10):1780–2.

    Article  CAS  PubMed  Google Scholar 

  72. 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.

    Article  PubMed  Google Scholar 

  73. Lillo P, Mioshi E, Hodges JR. Caregiver burden in amyotrophic lateral sclerosis is more dependent on patients’ behavioral changes than physical disability: a comparative study. BMC Neurol. 2012;12:156.

    Article  PubMed  PubMed Central  Google Scholar 

  74. Burke T, Elamin M, Galvin M, Hardiman O, Pender N. Caregiver burden in amyotrophic lateral sclerosis: a cross-sectional investigation of predictors. J Neurol. 2015;262(6):1526–32.

    Article  PubMed  Google Scholar 

  75. Mustfa N, Walsh E, Bryant V, et al. The effect of noninvasive ventilation on ALS patients and their caregivers. Neurology. 2006;66(8):1211–7.

    Article  CAS  PubMed  Google Scholar 

  76. National Hospice and Palliative Care Organization. Medicare hospice eligibility requirements. https://www.nhpco.org/hospice-eligibility-requirements, Dec 1, 2017.

  77. McCluskey L, Houseman G. Medicare hospice referral criteria for patients with amyotrophic lateral sclerosis: a need for improvement. J Palliat Med. 2004;7(1):47–53.

    Article  PubMed  Google Scholar 

  78. Creutzfeldt CJ, Gooley T, Walker M. Are neurology residents prepared to deal with dying patients? Arch Neurol. 2009;66(11):1427–8.

    Article  PubMed  Google Scholar 

  79. Carver AC, Vickrey BG, Bernat JL, Keran C, Ringel SP, Foley KM. End-of-life care: a survey of US neurologists’ attitudes, behavior, and knowledge. Neurology. 1999;53(2):284–93.

    Article  CAS  PubMed  Google Scholar 

  80. Schuh LA, Biondo A, An A, et al. Neurology resident learning in an end-of-life/palliative care course. J Palliat Med. 2007;10(1):178–81.

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA

    Maisha T. Robinson MD, MSHPM

  2. Department of Neurology, Neurological Institute, Cleveland Clinic, West Palm Beach, FL, USA

    Danny Estupinan MD

Authors
  1. Maisha T. Robinson MD, MSHPM
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  2. Danny Estupinan MD
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Corresponding author

Correspondence to Maisha T. Robinson MD, MSHPM .

Editor information

Editors and Affiliations

  1. Assistant Professor, Department of Neurology, University of Washington Harborview Medical Center, Seattle, WA, USA

    Claire J. Creutzfeldt

  2. Professor of Neurology, Chief Neurology Supportive and Palliative Care Section, Department of Neurology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

    Benzi M. Kluger

  3. Professor and Edward A. and Alma Vollertsen Rykenboer Chair, Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA

    Robert G. Holloway

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Robinson, M.T., Estupinan, D. (2019). Neuromuscular Diseases. In: Creutzfeldt, C., Kluger, B., Holloway, R. (eds) Neuropalliative Care. Springer, Cham. https://doi.org/10.1007/978-3-319-93215-6_8

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  • DOI: https://doi.org/10.1007/978-3-319-93215-6_8

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