Spinal Muscular Atrophy/Lambert Eaton Myasthenic Syndrome

  • Gregory Vurture
  • Benoit Peyronnet
  • Benjamin M. BruckerEmail author


Spinal muscular atrophy (SMA) and Lambert Eaton Myasthenic Syndrome (LEMS) are progressive neurologic conditions that manifest as muscular weakness. SMA is hereditary and LEMS is acquired, and LEM is frequently associated with an underlying malignancy such as small cell lung cancer. Both SMA and LEMS patients can develop urinary symptoms as part of the disease progression. SMA can be associated with bothersome nocturia and urinary frequency. Urinary retention has also been reported among LEMS and SMA patients. Urologic treatment goals are supportive and focused on reducing lower urinary tract symptoms and improving bladder emptying, if needed. Both SMA and LEMS patients have high surgical risk due to sensitivity to neuromuscular blocking agents.


Spinal muscular atrophy Lambert Eaton Myasthenic Syndrome Urinary incontinence Neurogenic bladder Urodynamics 


  1. 1.
    Prior TW, Finanger E. Spinal muscular atrophy. GeneReviews. Accessed on 03 Dec 2018.
  2. 2.
    Pellizzoni L, Kataoka N, Charroux B, Dreyfuss G. A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing. Cell. 1998;95:615.CrossRefPubMedGoogle Scholar
  3. 3.
    Wehner KA, Ayala L, Kim Y, Young PJ, Hosler BA, Lorson CL, et al. Survival motor neuron protein in the nucleolus of mammalian neurons. Brain Res. 2002;945(2):160–73.CrossRefPubMedGoogle Scholar
  4. 4.
    Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002;111:477.CrossRefPubMedGoogle Scholar
  5. 5.
    Gendron NH, MacKenzie AE. Spinal muscular atrophy: molecular pathophysiology. Curr Opin Neurol. 1999;12(2):137–42.CrossRefPubMedGoogle Scholar
  6. 6.
    Panigrahi I, Kesari A, Phadke SR, Mittal B. Clinical and molecular diagnosis of spinal muscular atrophy. Neurol India. 2002;50(2):117–22.PubMedGoogle Scholar
  7. 7.
    Motomura M, Johnston I, Lang B, et al. An improved diagnostic assay for Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry. 1995;58:85.CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    Elmqvist D, Lambert EH. Detailed analysis of neuromuscular transmission in a patient with the myasthenic syndrome sometimes associated with bronchogenic carcinoma. Mayo Clin Proc. 1968;43:689.PubMedGoogle Scholar
  9. 9.
    Benatar M, Blaes F, Johnston I, et al. Presynaptic neuronal antigens expressed by a small cell lung carcinoma cell line. J Neuroimmunol. 2001;113:153.CrossRefPubMedGoogle Scholar
  10. 10.
    Wirtz PW, Bradshaw J, Wintzen AR, Verschuuren JJ. Associated autoimmune diseases in patients with the Lambert-Eaton myasthenic syndrome and their families. J Neurol. 2004;251:1255.CrossRefPubMedGoogle Scholar
  11. 11.
    Wirtz PW, Smallegange TM, Wintzen AR, Verschuuren JJ. Differences in clinical features between the Lambert-Eaton myasthenic syndrome with and without cancer: an analysis of 227 published cases. Clin Neurol Neurosurg. 2002;104:359.CrossRefPubMedGoogle Scholar
  12. 12.
    Darras BT. Spinal muscular atrophies. Pediatr Clin N Am. 2015;62:743.CrossRefGoogle Scholar
  13. 13.
    Arnold WD, Kassar D, Kissel JT. Spinal muscular atrophy: diagnosis and management in a new therapeutic era. Muscle Nerve. 2015;51:157.CrossRefPubMedGoogle Scholar
  14. 14.
    Thomas NH, Dubowitz V. The natural history of type I (severe) spinal muscular atrophy. Neuromuscul Disord. 1994;4:497.CrossRefPubMedGoogle Scholar
  15. 15.
    Kolb SJ, Coffey CS, Yankey JW, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017;82:883.CrossRefPubMedPubMedCentralGoogle Scholar
  16. 16.
    Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33:831.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Clark CV, Newsom-Davis J, Sanders MD. Ocular autonomic nerve function in Lambert-Eaton myasthenic syndrome. Eye (Lond). 1990;4 (. Pt 3:473.CrossRefGoogle Scholar
  18. 18.
    O’Suilleabhain P, Low PA, Lennon VA. Autonomic dysfunction in the Lambert-Eaton myasthenic syndrome: serologic and clinical correlates. Neurology. 1998;50:88.CrossRefPubMedGoogle Scholar
  19. 19.
    Wirtz PW, Sotodeh M, Nijnuis M, et al. Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry. 2002;73:766.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    O’Neill JH, Murray NM, Newsom-Davis J. The Lambert-Eaton myasthenic syndrome. A review of 50 cases. Brain. 1988;111(Pt 3):577.CrossRefPubMedGoogle Scholar
  21. 21.
    Preston DC, Shapiro BE. Neuromuscular junction disorders. In: Electromyography and neuromuscular disorders: clinical-electrophysiologic correlations. 3rd ed: Elsevier; 2013. p. 529.Google Scholar
  22. 22.
    Motomura M, Johnston I, Lang B, et al. An improved diagnostic assay for Lambert-Eaton myasthenic syndrome. J Neurol Neurosurg Psychiatry. 1995;58:85.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Lennon VA, Kryzer TJ, Griesmann GE, et al. Calcium-channel antibodies in the Lambert-Eaton syndrome and other paraneoplastic syndromes. N Engl J Med. 1995;332:1467.CrossRefPubMedGoogle Scholar
  24. 24.
    Oskoui M, Levy G, Garland CJ, et al. The changing natural history of spinal muscular atrophy type 1. Neurology. 2007;69:1931.CrossRefPubMedGoogle Scholar
  25. 25.
    Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33:831.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Zerres K, Rudnik-Schöneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol. 1995;52:518.CrossRefPubMedGoogle Scholar
  27. 27.
    Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79:1889.CrossRefPubMedPubMedCentralGoogle Scholar
  28. 28.
    Rudnik-Schöneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur Neurol. 2001;45:174.CrossRefPubMedGoogle Scholar
  29. 29.
    Iannaccone ST. Modern management of spinal muscular atrophy. J Child Neurol. 2007;22(8):974–8. Scholar
  30. 30.
    Islander G. Anesthesia and spinal muscle atrophy. Paediatr Anaesth. 2013;23(9):804–16. Epub 2013 Apr 19CrossRefPubMedGoogle Scholar
  31. 31.
    Graham RJ, Athiraman U, Laubach AE, Sethna NF. Anesthesia and perioperative medical management of children with spinal muscular atrophy. Paediatr Anaesth. 2009;19(11):1054–63. Epub 2009 Jun 25CrossRefPubMedGoogle Scholar
  32. 32.
    Weingarten TN, Araka CN, Mogensen ME. Et. Al. Lambert-Eaton myasthenic syndrome during anesthesia: a report of 37 patients. J Clin Anesth. 2014;26(8):648–53. Epub 2014 Nov 18CrossRefPubMedGoogle Scholar
  33. 33.
    von Gontard A, Laufersweiler-Plass C, Backes M, Zerres K, Rudnik-Schöneborn S. Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy. BJU Int. 2001;88(4):409–13.CrossRefGoogle Scholar
  34. 34.
    Querin G, Bertolin C, Da Re E, et al. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. J Neurol Neurosurg Psychiatry. 2016;87(8):810–6. Epub 2015 Oct 26CrossRefPubMedGoogle Scholar
  35. 35.
    Uemura M, Nishimura K, Nakagawa M, et al. A case of Lambert-Eaton myasthnic syndrome associated with small cell lung carcinoma representing as urinary retention. Hinyokika Kiyo. 2003;49(9):535–8.PubMedGoogle Scholar
  36. 36.
    Satoh K, Motomura M, Suzu H, et al. Neurogenic bladder in Lambert-Eaton myasthenic syndrome and its response to 3,4-diaminopyridine. J Neurol Sci. 2001;183(1):1–4.CrossRefPubMedGoogle Scholar
  37. 37.
    Cameron AP. Medical management of neurogenic bladder with oral therapy. Transl Androl Urol. 2016;5(1):51–62. Scholar
  38. 38.
    Nitti VW, Khullar V, Kerrebroeck P. Et. al. Mirabegron for the treatment of overactive bladder: a prespecified pooled efficacy analysis and pooled safety analysis of three randomised, double-blind, placebo-controlled, phase III studies. Int J Clin Pract. 2013;67(7):619–32. Epub 2013 May 21CrossRefPubMedPubMedCentralGoogle Scholar
  39. 39.
    Yeowell G, Smith P, Nazir J, Hakimi Z, Siddiqui E, Fatoye F. Real-world persistence and adherence to oral antimuscarinics and mirabegron in patients with overactive bladder (OAB): a systematic literature review. BMJ Open. 2018;8(11):e021889. Scholar
  40. 40.
    Wöllner J, Pannek J. Initial experience with the treatment of neurogenic detrusor overactivity with a new β-3 agonist (mirabegron) in patients with spinal cord injury. Spinal Cord. 2016;54(1):78–82. Epub 2015 Oct 27CrossRefPubMedGoogle Scholar
  41. 41.
    Peyronnet B, Gamé X, Vurture G, Nitti VW, Brucker BM. Botulinum toxin use in Neurourology. Rev Urol. 2018;20(2):84–93. Scholar
  42. 42.
    Tullman M, Chartier-Kastler E, Kohan A. Et. al., Low-dose onabotulinumtoxinA improves urinary symptoms in noncatheterizing patients with MS. Neurology. 2018;91(7):e657–65. Epub 2018 Jul 20CrossRefPubMedPubMedCentralGoogle Scholar
  43. 43.
    Sadiq A, Brucker BM. Management of neurogenic lower urinary tract dysfunction in multiple sclerosis patients. Curr Urol Rep. 2015;16(7):44. Scholar
  44. 44.
    Vurture G, Peyronnet B, Feigin A. Et. al. outcomes of intradetrusor onabotulinum toxin a injection in patients with Parkinson’s disease. Neurourol Urodyn. 2018;37(8):2669–77. Epub 2018 May 16CrossRefPubMedPubMedCentralGoogle Scholar
  45. 45.
    Stoffel JT, Peterson AC, Sandhu JS, AM S, Wei JT, Lightner DJ. AUA white paper on nonneurogenic chronic urinary retention: consensus definition, treatment algorithm, and outcome end points. J Urol. 2017;198(1):153–60. Epub 2017 Feb 3CrossRefPubMedGoogle Scholar
  46. 46.
    Suzukia Y, Sano N, Shinonaga C, Fukuda M, Hyodo M, Morimoto T. Successful botulinum toxin treatment of dysphagia in a spinal muscular atrophy type 2 patient. Brain and Development. 2007;29(10):662–5. Epub 2007 May 25CrossRefPubMedGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Gregory Vurture
    • 1
  • Benoit Peyronnet
    • 1
  • Benjamin M. Brucker
    • 1
    Email author
  1. 1.Department of UrologyNew York University, Langone HealthNew YorkUSA

Personalised recommendations