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Cataplexy and Its Mimics: Clinical Recognition and Management

Opinion statement

This review describes the diagnosis and management of cataplexy: attacks of bilateral loss of muscle tone, triggered by emotions and with preserved consciousness. Although cataplexy is rare, its recognition is important as in most cases, it leads to a diagnosis of narcolepsy, a disorder that still takes a median of 9 years to be diagnosed. The expression of cataplexy varies widely, from partial episodes affecting only the neck muscles to generalized attacks leading to falls. Moreover, childhood cataplexy differs from the presentation in adults, with a prominent facial involvement, already evident without clear emotional triggers (‘cataplectic facies’) and ‘active’ motor phenomena especially of the tongue and perioral muscles. Next to narcolepsy, cataplexy can sometimes be caused by other diseases, such as Niemann-Pick type C, Prader Willi Syndrome, or lesions in the hypothalamic or pontomedullary region. Cataplexy mimics include syncope, epilepsy, hyperekplexia, drop attacks and pseudocataplexy. They can be differentiated from cataplexy using thorough history taking, supplemented with (home)video recordings whenever possible. Childhood narcolepsy, with its profound facial hypotonia, can be confused with neuromuscular disorders, and the active motor phenomenona resemble those found in childhood movement disorders such as Sydenham’s chorea. Currently, the diagnosis of cataplexy is made almost solely on clinical grounds, based on history taking and (home) videos. Cataplexy shows remarkable differences in childhood compared to adults, with profound facial hypotonia and complex active motor phenomena. Over time, these severe symptoms evolve to the milder adult phenotype, and this pattern is crucial to recognize when assessing the outcome of uncontrolled case series with potential treatments such as immunomodulation. Symptomatic treatment is possible with antidepressants and sodium oxybate. Importantly, management also needs to involve sleep hygiene advice, safety measures whenever applicable and guidance with regard to the social sequelae of cataplexy.

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Correspondence to Sigrid Pillen MD PhD.

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Conflict of Interest

Fabio Pizza and Karlien Dhondt declare that they have no conflict of interest.

Sigrid Pillen received speaker’s fees from congress organizations (SCEM and JCC, The Netherlands) for postgraduate education on sleep problems in children.

Thomas E. Scammell is supported by research grants from the NIH (HL095491, DE022912) and the Foundation for Prader Willi Research. He has received consulting fees from Reset Therapeutics, Avadel Pharmaceuticals, Marathon Pharmaceuticals, Merck, Jazz Pharmaceuticals, SK Biopharmaceuticals, Purdue Pharma, Ono Pharmaceuticals and Janssen.

Sebastiaan Overeem is supported by a VIDI research grant from the Netherlands Organization for Scientific Research (grant no. 016.116.371), received an unrestricted research grant from UCB Pharma not related to the present work and received conference travel support from UCB Pharma, Novartis and Boehringer Ingelheim.

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Pillen, S., Pizza, F., Dhondt, K. et al. Cataplexy and Its Mimics: Clinical Recognition and Management. Curr Treat Options Neurol 19, 23 (2017). https://doi.org/10.1007/s11940-017-0459-0

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Keywords

  • Cataplexy
  • Narcolepsy
  • Pseudocataplexy
  • Drop attacks
  • Syncope
  • Sodium oxybate