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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Narcolepsy


Other Names for this Disease
  • Gélineau disease
  • Gelineau syndrome
  • Gelineau's syndrome
  • Narcolepsy-cataplexy
  • Narcolepsy-cataplexy syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is narcolepsy diagnosed?

Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnosed as various other conditions or psychological problems.[1] While it is most easily recognized if all the major symptoms are reported, making the diagnosis based solely on symptoms is difficult. People often seek medical help for single symptoms that could be associated with other disorders, particularly epilepsy. In come cases, symptoms are not dramatically apparent for years.[1]

Sleep studies are an essential part of the evaluation of people with possible narcolepsy. The combination of an overnight polysomnogram (PSG) followed by a multiple sleep latency test (MSLT) can provide strongly suggestive evidence of narcolepsy, while excluding other sleep disorders. Measurement of hypocretin levels in the cerebrospinal fluid (CSF) may further help to establish the diagnosis.[2] People with narcolepsy often have extremely low levels of hypocretin in their CSF.[3] In some cases, human leukocyte antigen (HLA) typing may be helpful.[4]
Last updated: 4/27/2015

References
  1. Narcolepsy. University of Maryland Medical Center. September 18, 2013; http://umm.edu/health/medical/reports/articles/narcolepsy.
  2. Ali M Bozorg. Narcolepsy. Medscape. April 15, 2015; http://emedicine.medscape.com/article/1188433-overview.
  3. Narcolepsy. NORD. March 2, 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/55/viewAbstract.
  4. Narcolepsy Fact Sheet. National Institute of Neurological Disorders and Stroke. January 5, 2015; http://www.ninds.nih.gov/disorders/narcolepsy/detail_narcolepsy.htm.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Gélineau disease
  • Gelineau syndrome
  • Gelineau's syndrome
  • Narcolepsy-cataplexy
  • Narcolepsy-cataplexy syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.