Skip to main content

Amyotrophic Lateral Sclerosis and Motor Neuron Disease

  • Chapter
  • First Online:
Neurologic and Neurodegenerative Diseases of the Larynx

Abstract

Motor neuron diseases (MNDs) are progressive neurodegenerative disorders affecting spinal and bulbar nerves. Of this class of diseases, amyotrophic lateral sclerosis (ALS) is the most common. Other MNDs differ in age of onset, distribution of motor neuron involvement, and disease severity. Most occur sporadically and have no clear cause, while a minority are inherited. All share an unrelenting course without known cure and commonly impair communication, deglutition, and respiration. They universally create significant impact to patient’s quality of life, nutritional status, and longevity. Treatments focus on managing symptoms and preventing adverse sequelae related to neurologic deficits.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 159.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Vesey S. The challenges of dysphagia in treating motor neurone disease. Br J Community Nurs. 2017;22(Suppl 7):S17–21.

    Article  PubMed  Google Scholar 

  2. Luchesi KF, Kitamua S, Mourão LF. Amyotrophic lateral sclerosis survival analysis: swallowing and non-oral feeding. Neuro Rehabilitation. 2014;35(3):535–42.

    CAS  PubMed  Google Scholar 

  3. Nakamori M, Hosomi N, Takaki S, Oda M, Hiraoka A, Yoshikawa M, et al. Tongue thickness evaluation using ultrasonography can predict swallowing function in amyotrophic lateral sclerosis patients. Clin Neurophysiol. 2016;127(2):1669–74.

    Article  PubMed  Google Scholar 

  4. Armon C. An evidence-based medicine approach to the evaluation of the role of exogenous risk factors in sporadic amyotrophic lateral sclerosis. Neuroepidemiology. 2003;22(4):217–28.

    Article  PubMed  Google Scholar 

  5. National Institute of Neurological Disorders and Stroke. Motor Neuron Diseases Information Page. Date last modified: 27 Mar 2019. https://www.ninds.nih.gov/Disorders/All-Disorders/Motor-Neuron-Diseases-Information-Page. Accessed 19 Jun 2019.

  6. Rowland LP. How amyotrophic lateral sclerosis got its name: the clinical-pathologic genius of Jean-Martin Charcot. Arch Neurol. 2001;58(3):512–5.

    Article  CAS  PubMed  Google Scholar 

  7. Riva N, Agosta F, Lunetta C, et al. Neurological update: recent advances in amyotrophic lateral sclerosis. Neurology. 2016;263:1241–54.

    Article  CAS  Google Scholar 

  8. Murono S, Hamaguchi T, Yoshida H, Nakanishi Y, Tsuji A, Endo K, et al. Evaluation of dysphagia at the initial diagnosis of amyotrophic lateral sclerosis. Auris Nasus Larynx. 2015;42(3):213–7.

    Article  PubMed  Google Scholar 

  9. Finsterer J, Soraru G. Onset manifestations of spinal and bulbar muscular atrophy (Kennedy’s Disease). J Mol Neurosci. 2016;58(3):321–9.

    Article  CAS  PubMed  Google Scholar 

  10. MacLean HE, Warne GL, Zajac JD. Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion. J Neurol Sci. 1996;135(2):149–57.

    Article  CAS  PubMed  Google Scholar 

  11. Fink JK. Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis. Semin Neurol. 2001;21(2):199–207.

    Article  CAS  PubMed  Google Scholar 

  12. Stevanin G, Azzedine H, Denora P, Boukhris A, Tazir M, Lossos A, et al. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain. 2008;131(Pt 3):772–84.

    Article  PubMed  Google Scholar 

  13. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006;6(1):65–76.

    Article  CAS  PubMed  Google Scholar 

  14. Mannan AU, Krawen P, Sauter SM, Boehm J, Chronowska A, Paulus W, et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet. 2006;79(2):351–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Rubin AD, Griffin GR, Hogikyan ND, Feldman EL. A new member of the multidisciplinary ALS team: the otolaryngologist. Amyotroph Lateral Scler. 2012;13(2):229–32.

    Article  PubMed  Google Scholar 

  16. Beghi E, Chiò A, Couratier P, Esteban J, Hardiman O, Logroscino G, et al. The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials. Amyotroph Lateral Scler. 2011;12(1):1–10.

    Article  PubMed  Google Scholar 

  17. Chen A, Garrett CG. Otolaryngologic presentations of amyotrophic lateralsclerosis. Otolaryngol Head Neck Surg. 2005;132(3):500–4.

    Article  PubMed  Google Scholar 

  18. Talbott EO, Malek AM, Lacomis D. The epidemiology of amyotrophic lateral sclerosis. Handb Clin Neurol. 2016;138:225–38.

    Article  CAS  PubMed  Google Scholar 

  19. Almer G, Vukosavic S, Romero N, Przedborski S. Inducible nitric oxide synthase up-regulation in a transgenic mouse model of familial amyotrophic lateral sclerosis. J Neurochem. 1999;72(6):2415–25.

    Article  CAS  PubMed  Google Scholar 

  20. Wiedemann FR, Winkler K, Kuznetsov AV, Bartels C, Vielhaber S, Feistner H, et al. Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci. 1998;156(1):65–72.

    Article  CAS  PubMed  Google Scholar 

  21. D’Amico E, Pasmantier M, Lee YW, Weimer L, Mitsumoto H. Clinical evolution of pure upper motor neuron disease/dysfunction (PUMMD). Muscle Nerve. 2013;47(1):28–32.

    Article  PubMed  Google Scholar 

  22. Valadi N. Evaluation and management of amyotrophic lateral sclerosis. Prim Care. 2015;42(2):177–87.

    Article  PubMed  Google Scholar 

  23. Mayberry JF, Atkinson M. Swallowing problems in patients with motor neuron disease. J Clin Gastroenterol. 1986;8(3 Pt 1):233–4.

    Article  CAS  PubMed  Google Scholar 

  24. Stambler N, Charatan M, Cedarbaum JM. Prognostic indicators of survival in ALS. ALS CNTF Treatment Study Group. Neurology. 1998;50(1):66–72.

    Article  CAS  PubMed  Google Scholar 

  25. Motor Neuron Disease Association, Northampton, United Kingdom. Cognitive change and frontotemporal dementia. Updated Jun 2019. http://bit.ly/2rJc0w4. Accessed 19 Jun 2019.

  26. Cohen SM, Elackattu A, Noordzij JP, Walsh MJ, Langmore SE. Palliative treatment of dysphonia and dysarthria. Otolaryngol Clin N Am. 2009;42(1):107–21, x.

    Article  Google Scholar 

  27. Kühnlein P, Gdynia HJ, Sperfeld AD, Lindner-Pfleghar B, Ludolph AC, Prosiegel M, et al. Diagnosis and treatment of bulbar symptoms in amyotrophic lateral sclerosis. Nat Clin Pract Neurol. 2008;4(7):366–74.

    Article  PubMed  Google Scholar 

  28. Leighton SE, Burton MJ, Lund WS, Cochrane GM. Swallowing in motor neurone disease. J R Soc Med. 1994;87(12):801–5.

    CAS  PubMed  PubMed Central  Google Scholar 

  29. van den Engel-Hoek L, Erasmus CE, van Bruggen HW, de Swart BJ, Sie LT, Steenks MH, et al. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem? Neurology. 2009;73(21):1787–91.

    Article  PubMed  Google Scholar 

  30. R W, M I, M H, J S. M H. primary lateral sclerosis. Neuropathology. 1997;17(3):220–4.

    Article  Google Scholar 

  31. Szacka K, Potulska-Chromik A, Fronczewska-Wieniawska K, Spychała A, Kròlicki L, Kuźma-Kozakiewicz M. Scintigraphic evaluation of mild to moderate dysphagia in motor neuron disease. Clin Nucl Med. 2016;41(4):e175–80.

    Article  PubMed  Google Scholar 

  32. Cerero Lapiedra R, Moreno López LA, Esparza Gómez GC. Progressive bulbar palsy: a case report diagnosed by lingual symptoms. J Oral Pathol Med. 2002;31(5):277–9.

    Article  CAS  PubMed  Google Scholar 

  33. Amin MR, Harris D, Cassel SG, Grimes E, Heiman-Patterson T. Sensory testing in the assessment of laryngeal sensation in patients with amyotrophic lateral sclerosis. Ann Otol Rhinol Laryngol. 2006;115(7):528–34.

    Article  PubMed  Google Scholar 

  34. Corcia P, Pradat PF, Salachas F, Bruneteau G, Forestier N, Seilhean D, et al. Causes of death in a post-mortem series of ALS patients. Amyotroph Lateral Scler. 2008;9(1):59–62.

    Article  PubMed  Google Scholar 

  35. Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, 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 

  36. Brandão RKC, de Carvalho GGP, Silva RR, Dias DLS, Mendes FBL, Lins TOJD, et al. Correlation between production performance and feeding behavior of steers on pasture during the rainy-dry transition period. Trop Anim Health Prod. 2018;50(1):105–11.

    Article  PubMed  Google Scholar 

  37. Tabor L, Gaziano J, Watts S, Robison R, Plowman EK. Defining swallowing-related quality of life profiles in individuals with amyotrophic lateral sclerosis. Dysphagia. 2016;31(3):376–82.

    Article  PubMed  PubMed Central  Google Scholar 

  38. Waito AA, Valenzano TJ, Peladeau-Pigeon M, Steele CM. Trends in research literature describing dysphagia in motor neuron diseases (MND): a scoping review. Dysphagia. 2017;32(6):734–47.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Banno H, Katsuno M, Suzuki K, Tanaka S, Suga N, Hashizume A, et al. Swallowing markers in spinal and bulbar muscular atrophy. Ann Clin Transl Neurol. 2017;4(8):534–43.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Fattori B, Siciliano G, Mancini V, Bastiani L, Bongioanni P, Caldarazzo Ienco E, et al. Dysphagia in amyotrophic lateral sclerosis: relationships between disease progression and fiberoptic endoscopic evaluation of swallowing. Auris Nasus Larynx. 2017;44(3):306–12.

    Article  PubMed  Google Scholar 

  41. Plowman EK, Watts SA, Robison R, Tabor L, Dion C, Gaziano J, et al. Voluntary cough airflow differentiates safe versus unsafe swallowing in amyotrophic lateral sclerosis. Dysphagia. 2016;31(3):383–90.

    Article  PubMed  PubMed Central  Google Scholar 

  42. Barber C. Management of bulbar symptoms in motor neurone disease: a community speech and language therapist perspective. Br J Neurosci Nursing. 2015;11(1):41–6.

    Article  Google Scholar 

  43. Beukelman DR, Fager S, Ball L, Dietz A. AAC for adults with acquired neurological conditions: a review. Augment Altern Commun. 2007;23(3):230–42.

    Article  PubMed  Google Scholar 

  44. Plowman EK, Watts SA, Tabor L, Robison R, Gaziano J, Domer AS, et al. Impact of expiratory strength training in amyotrophic lateral sclerosis. Muscle Nerve. 2016;54(1):48–53.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Kübler A, Nijboer F, Mellinger J, Vaughan TM, Pawelzik H, Schalk G, et al. Patients with ALS can use sensorimotor rhythms to operate a brain-computer interface. Neurology. 2005;64(10):1775–7.

    Article  PubMed  Google Scholar 

  46. Group PS. Gastrostomy in patients with amyotrophic lateral sclerosis (ProGas): a prospective cohort study. Lancet Neurol. 2015;14(7):702–9.

    Article  Google Scholar 

  47. Chiò A, Finocchiaro E, Meineri P, Bottacchi E, Schiffer D. Safety and factors related to survival after percutaneous endoscopic gastrostomy in ALS. ALS Percutaneous Endoscopic Gastrostomy Study Group. Neurology. 1999;53(5):1123–5.

    Article  PubMed  Google Scholar 

  48. Mitsumoto H, Davidson M, Moore D, Gad N, Brandis M, Ringel S, et al. Percutaneous endoscopic gastrostomy (PEG) in patients with ALS and bulbar dysfunction. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003;4(3):177–85.

    Article  CAS  PubMed  Google Scholar 

  49. Katzberg HD, Benatar M. Enteral tube feeding for amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2011;1:CD004030.

    Google Scholar 

  50. Chhetri SK, Bradley BF, Majeed T, Lea RW. Enteral feeding in motor neurone disease: Patients’ perspectives and impact on quality of life. Palliat Med. 2017;31(7):676–7.

    Article  PubMed  Google Scholar 

  51. Niedermeyer S, Murn M, Choi PJ. Respiratory failure in amyotrophic lateral sclerosis. Chest. 2019;155(2):401–8.

    Article  PubMed  Google Scholar 

  52. Vianello A, Arcaro G, Palmieri A, Ermani M, Braccioni F, Gallan F, et al. Survival and quality of life after tracheostomy for acute respiratory failure in patients with amyotrophic lateral sclerosis. J Crit Care. 2011;26(3):329.e7–14.

    Article  Google Scholar 

  53. Garvey CM, Boylan KB, Salassa JR, Kennelly KD. Total laryngectomy in patients with advanced bulbar symptoms of amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2009;10(5–6):470–5.

    Article  PubMed  Google Scholar 

  54. Geevasinga N, Menon P, Scherman DB, Simon N, Yiannikas C, Henderson RD, et al. Diagnostic criteria in amyotrophic lateral sclerosis: a multicenter prospective study. Neurology. 2016;87(7):684–90.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Maggie A. Kuhn .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Kuhn, M.A., Williams, L.M. (2020). Amyotrophic Lateral Sclerosis and Motor Neuron Disease. In: Weissbrod, P., Francis, D. (eds) Neurologic and Neurodegenerative Diseases of the Larynx. Springer, Cham. https://doi.org/10.1007/978-3-030-28852-5_11

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-28852-5_11

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-28851-8

  • Online ISBN: 978-3-030-28852-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics