Peripheral Nerve Hyperexcitability Syndromes

Komal Sawlani, MD; Bashar Katirji, MD, FACP, FAAN Peripheral Nerve and Motor Neuron Disorders p. 1437-1450 October 2017, Vol.23, No.5 doi: 10.1212/CON.0000000000000520
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Purpose of Review: This article provides a review of the clinical phenotypes and evaluation of peripheral nerve hyperexcitability syndromes. These rare diagnoses include cramp-fasciculation syndrome, Isaacs syndrome, and Morvan syndrome. Recent investigations have led to an understanding of the autoimmune underpinnings of these conditions and their specific associated antibodies. As the presentation of peripheral nerve hyperexcitability syndromes includes muscle stiffness, twitches, and spasms, which are also shared with certain central nervous system and myopathic conditions, the differential diagnosis of peripheral nerve hyperexcitability syndromes is reviewed.

Recent Findings: Peripheral nerve hyperexcitability syndromes share clinical and electrodiagnostic evidence of motor nerve instability; however, their clinical presentations are varied. Case reviews have helped us understand the spectrum of symptoms associated with the three peripheral nerve hyperexcitability syndromes reviewed here: cramp-fasciculation syndrome, Isaacs syndrome, and Morvan syndrome. More recently, research has focused on understanding the voltage-gated potassium channel complex antibodies as well as neoplasms associated with these conditions.

Summary: The diagnosis of peripheral nerve hyperexcitability syndromes requires a high index of suspicion, support from the physical examination, familiarity with the spectrum of symptoms associated with peripheral nerve hyperexcitability syndromes, and recognition of diagnostic EMG features. Voltage-gated potassium channel complex antibodies are associated with these conditions. Optimum treatment and autoimmune pathogenesis remain areas of active research.

Address correspondence to: Dr Bashar Katirji, University Hospitals Cleveland Medical Center, Case Western Reserve University, Neurological Institute, Bolwell Health Center, Fifth Floor, 11100 Euclid Ave, Cleveland, OH 44106, [email protected].

Relationship Disclosure: Dr Sawlani reports no disclosure. Dr Katirji receives publishing royalties from the American Association of Neuromuscular & Electrodiagnostic Medicine, Elsevier, and Springer Nature.

Unlabeled Use of Products/Investigational Use Disclosure: Drs Sawlani and Katirji report no disclosures.

Supplemental digital content: Videos accompanying this article are cited in the text as Supplemental Digital Content. Videos may be accessed by clicking on links provided in the HTML, PDF, and app versions of this article; the URLs are provided in the print version. Video legends begin on page 1448.

Copyright © 2017 by the American Academy of Neurology.