Neuromyotonia: Remembering a Rare Pathology
DOI:
https://doi.org/10.24950/CC/71/20/3/2020Keywords:
Isaacs Syndrome/diagnosis, Isaacs Syndrome /therapyAbstract
Neuromyotonia is an exceedingly rare disease. In most cases it seems to be acquired, with a probable autoimmune origin. It is characterized by peripheral nerve hyperexcitability with muscle hyperactivity and deficient relaxation, and it is frequently accompanied by autonomic and sensitive symptoms. The diagnosis is established by electromyography, showing spontaneous, multiple single motor unit discharges, firing at a high frequency. The diagnosis is relevant not only to achieve symptom control but also for its known association with neoplasia, which must be ruled out. Nevertheless, the diagnosis is difficult to establish due to the nonspecific and variable symptoms that may lead to confusion with the more common psychiatric or motor neuron diseases. Misdiagnose can result in incorrect therapeutic actions with further iatrogenic symptoms. We report a typical case of neuromyotonia, in respect of which we review the clinical presentation, complementary diagnostic methods, natural evolution and treatment of the disease.
Downloads
References
Maddison P. Neuromyotonia. Pract Neurol. 2002;2:225-9.doi:10.1046/j.1474-7766.2002.00068.x
Ahmed A, Simmons Z. Isaacs syndrome: A review. Muscle Nerve. 2015;52:5-12. doi:10.1002/mus.24632
Sawlani K, Katirji B. Peripheral nerve hyperexcitability syndromes. Continuum. 2017;23:1437–50. doi: 10.1212/CON.0000000000000520
Orpha.net [homepage na Internet]. Paris: Instituto Nacional Francês para a Saúde e Investigação Médica. [consultado 10 Abril 2020] Disponível em: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=84142
Lee W, Day TJ, Williams DR.Clinical, laboratory and electrophysiological features of Morvan’s Fibrillary Chorea. J Clin Neurosci. 2013;20:1246–9. doi:10.1016/j.jocn.2012.10.029
Hart IK, Maddison P, Newsome-Davis J, Vincent A, Mills KR. Phenotypic variants of autoimmune peripheral nerve hyperexcitability. Brain. 2002;125:1887–95. doi:10.1093/brain/awf178
Vincent A., Pettingill P., Pettingill R., Lang B., Birch R.,Waters P, et al. Association of leucine-rich glioma inactivated protein 1, contactin associated protein 2, and contactin 2 antibodies with clinical features and patient-reported pain in acquired neuromyotonia. JAMA Neurol. 2018;75:1519–27. doi:
1001/jamaneurol.2018.2681
Nakatsuji Y, Kaido M, Sugai F, Nakamori M, Abe K, Watanabe O, Arimura K, Sakoda S. Isaacs' syndrome successfully treated by immunoadsorption plasmapheresis. Acta Neurol Scand. 2000;102:271-3. doi: 10.1034/j.1600--0404.2000.102004271.x.
Béquet D, Devière F, Renard JL, Felten D. Syndrome d'Isaacs: amélioration durable par les immunoglobulines polyvalentes intraveineuses. Rev Neurol. 1997;153:602-4.
Downloads
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Copyright (c) 2023 Medicina Interna