Gómez-Fernández L, Maragoto-Rizo C, Jiménez-Gil FJ

Language: Spanish
References: 38
Page: 349-355
PDF size: 577.92 Kb.

ABSTRACT

Continuous muscle fiber activity syndrome (CMFAS) includes different clinical entities, all of them have in common the presence of involuntary muscular activity in the absence of structural lesions in the CNS, basal ganglia dysfunction or a neurotoxic effect of any kind. The abnormal activity could be caused by hyperexcitability of the α motor neuron in the anterior horn of the spinal cord, in the peripheral nerve or in the muscular fiber itself. They are all rare diseases, with a very low prevalence, probably underdiagnosed. In the present article we describe specifically two variants of CMFAS very similar with its origin in the nervous system: the stiff-person syndrome and the Isaac’s syndrome. We propose a diagnostic strategy based on their personal experience and a review of the literature with a special emphasis in the electromyographical characterization of the disorder.

REFERENCES

1. Bergman H, Deuschl G. Pathophysiology of Parkinson’s disease: from clinical neurology to basic neuroscience and back. Mov Disord 2002; 17(Suppl. 3): S28-40.

2. Isaacs H. A syndrome of continuous muscle-fibre activity. J Neurol Neurosurg Psychiatry 1961; 24: 319-25.

3. Moersch FP, Woltman HW. Progressive fluctuating muscular rigidity and spasm («stiff-man» syndrome); report of a case and some observations in 13 other cases. Proc Staff Meet Mayo Clin 1956; 31: 421-7.

4. Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962; 68: 52-7.

5. Dalakas MC. Advances in the pathogenesis and treatment of patients with stiff person syndrome. Curr Neurol Neurosci Rep 2008; 8: 48-55.

6. Murinson BB. Stiff-person syndrome. Neurologist 2004; 10: 131-7.

7. Barker RA, Revesz T, Thom M, Marsden CD, Brown P. Review of 23 patients affected by the stiff man syndrome: clinical subdivision into stiff trunk (man) syndrome, stiff limb syndrome, and progressive encephalomyelitis with rigidity. J Neurol Neurosurg Psychiatry 1998; 65: 633-40.

8. Meinck HM, Ricker K, Hulser PJ, Solimena M. Stiff man syndrome: neurophysiological findings in eight patients. J Neurol 1995; 242: 134-42.

9. Dalakas MC. Advances in the pathogenesis and treatment of patients with stiff person syndrome. Curr Neurol Neurosci Rep 2008; 8: 48-55.

10. Meinck HM, et al. Antibodies against glutamic acid decarboxylase: prevalence in neurological diseases. J Neurol Neurosurg Psychiatry 2001; 71: 100-3.

11. Dinkel K, Meinck HM, Jury KM, Karges W, Richter W. Inhibition of gamma-aminobutyric acid synthesis by glutamic acid decarboxylase autoantibodies in stiff-man syndrome. Ann Neurol 1998; 44: 194- 201.

12. Solimena M, Folli F, Aparisi R, Pozza G, De CP. Autoantibodies to GABA-ergic neurons and pancreatic beta cells in stiff-man syndrome. N Engl J Med 1990; 322: 1555-60.

13. Levy LM, Levy-Reis I, Fujii M, Dalakas MC. Brain gamma-aminobutyric acid changes in stiff-person syndrome. Arch Neurol 2005; 62: 970-4.

14. Agarwal PA, Ichaporia NR. Glutamic acid decarboxylase antibodypositive paraneoplastic stiff limb syndrome associated with carcinoma of the breast. Neurol India 2010; 58: 449-51.

15. Lemieux J, Provencher L, Brunet D, Hogue JC. Paraneoplastic encephalomyelitis, stiff person syndrome and breast carcinoma. Can J Neurol Sci 2011; 38: 790-2.

16. Dalakas MC. Stiff person syndrome: advances in pathogenesis and therapeutic interventions. Curr Treat Options Neurol 2009; 11: 102-10.

17. Katoh N, Matsuda M, Ishii W, Morita H, Ikeda S. Successful treatment with rituximab in a patient with stiff-person syndrome complicated by dysthyroid ophthalmopathy. Intern Med 2010; 49: 237-41.

18. Lobo ME, Araujo ML, Tomaz CA, Allam N. Stiff-person syndrome treated with rituximab. BMJ Case Rep 2010.

19. McKeon A, et al. Stiff-man syndrome and variants: clinical course, treatments, and outcomes. Arch Neurol 2012; 69: 230-8.

20. Hegyi CA. Physical therapist management of stiff person syndrome in a 24-year-old woman. Phys Ther 2011; 91: 1403-11.

21. Mertens HG, Zschocke S. Neuromyotonia. Klin Wochenschr 1965; 43: 917-25.

22. Lance JW, Burke D, Pollard J. Hyperexcitability of motor and sensory neurons in neuromyotonia. Ann Neurol 1979; 5: 523-32.

23. Montero HJ, Barraquer BL, Martinez Matos JA, Peres SJ. Congenital neuromyotonia. Retrospective study of 4 cases. Neurologia 1999; 14: 328-37.

24. Eunson LH, et al. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol 2000; 48: 647-56.

25. Torres L, Cosentino C, Velez M, Anicama A. A case of Isaacs’ syndrome associated with dextrocardia. Rev Neurol 2001; 33: 1151-4.

26. Warmolts JR, Mendell JR. Neurotonia: impulse-induced repetitive discharges in motor nerves in peripheral neuropathy. Ann Neurol 1980; 7: 245-50.

27. Hart IK, et al. Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Ann Neurol 1997; 41: 238-46.

28. Shillito P, et al. Acquired neuromyotonia: evidence for autoantibodies directed against K+ channels of peripheral nerves. Ann Neurol 1995; 38: 714-22.

29. Arimura K, et al. Isaacs syndrome as a potassium channelopathy of the nerve. Muscle Nerve 2002; Suppl 11: S55-8.

30. Buckley C. Diseases associated with antibodies to voltage-gated potassium channels. ACNR 2005; 5: 11-12.

31. Nagado T, et al. Potassium current suppression in patients with peripheral nerve hyperexcitability. Brain1999; 122: 2057-66.

32. Isaacs H, Heffron JJ. The syndrome of continuous muscle-fibre activity cured: further studies. J Neurol Neurosurg Psychiatry 1974; 37: 1231-5.

33. Dalakas MC. Basic aspects of neuroimmunology as they relate to immunotherapeutic targets: present and future prospects. Ann Neurol 1995; 37(Suppl. 1): S2-13., S2-13.

34. Ozer S, et al. Two stiff person cases misdiagnosed as conversion disorder. Turk Psikiyatri Derg 2009; 20: 392-7.

35. Fischer D, Schroder R. Isaacs syndrome. Diagnosis and differential diagnosis of neuromyotonia. Nervenarzt 2004; 75: 531-5.

36. Liguori R, et al. Morvan’s syndrome: peripheral and central nervous system and cardiac involvement with antibodies to voltage-gated potassium channels. Brain 2001; 124: 2417-26.

37. Newsom-Davis J. Neuromyotonia. Rev Neurol (Paris) 2004; 160: S85-S89.

38. Udani VP, Dharnidharka VR, Gajendragadkar AR, Udani SV. Sporadic Stiffman syndrome in a young girl. Pediatr Neurol 1997; 17: 58-60.