Narcolepsy Clinical Presentation

  • Author: Ali M Bozorg, MD; Chief Editor: Selim R Benbadis, MD   more...
 
Updated: Feb 19, 2010
 

History

The classic tetrad consists of excessive daytime sleepiness (EDS), cataplexy, hypnagogic hallucinations, and sleep paralysis. Children rarely manifest all 4 symptoms.

  • EDS is the primary symptom of narcolepsy and must be present for at least 3 months in all patients.
    • Sleepiness is a normal experience that cycles and invariably occurs after prolonged wakefulness. In healthy persons, mild sleepiness is apparent only during boring situations (eg, falling asleep while watching TV).
    • In patients with narcolepsy, severe EDS leads to involuntary somnolence during more active conditions such as driving, eating, or talking. Sleepiness in narcolepsy may be severe and constant, with paroxysms during which patients may fall asleep without warning (ie, sleep attacks).
    • Patients with narcolepsy tend to take short and refreshing naps (ie, REM type naps) during the day. Their daytime naps may be accompanied by dreams.
    • Several questionnaires evaluate sleepiness. The most commonly used is the 8-question Epworth Sleepiness Scale (1991).
      • Patients respond to each question on a scale from 0 (not at all likely to fall asleep) to 3 (very likely to fall asleep).
      • The resulting total score is between 0 and 24.
      • Although what score constitutes abnormal sleepiness is controversial, total scores above 10 generally warrant investigation.
  • Cataplexy (Latin, "to strike down with fear") is a brief and sudden loss of muscle tone and represents REM intrusion during wakefulness.
    • If severe and generalized, it may cause a fall.
    • More subtle forms exist with only partial loss of tone (eg, head nod and knee buckling).
    • Respiratory and extraocular movements are preserved.
    • The most characteristic feature of cataplexy is that it usually is triggered by emotions (usually laughter and anger).
    • Cataplexy is seen in about 70% of patients with narcolepsy, and its presence with EDS strongly suggests the diagnosis of narcolepsy.
  • Sleep paralysis is the inability to move upon awakening or less commonly upon falling asleep with consciousness intact.
    • It often is accompanied by hallucinations.
    • Respiratory and extraocular muscles are spared.
    • Sleep paralysis can be relieved by sensory stimuli such as touching or speaking to the patient.
    • Sleep paralysis occurs less frequently when patients sleep in uncomfortable positions.
  • Sleep-related hallucinations may occur at sleep onset (ie, hypnagogic) or awakening (ie, hypnopompic) and are usually vivid (dreamlike) visual, auditory, or tactile in nature.
  • Disrupted nocturnal sleep is also a common feature of narcolepsy. Consequently, total sleep time in 24 hours in narcoleptic patients is essentially unchanged due to daytime naps.
  • Obesity is another common feature of narcolepsy and may lead to the coexistence of obstructive sleep apnea.
  • The classic picture of narcolepsy may be somewhat different in young children.
    • Children may deny EDS because of embarrassment.
    • Sometimes restlessness and motor overactivity may predominate.
    • Academic deterioration, inattentiveness, and emotional lability are common.
    • In one study of 51 prepubertal patients with narcolepsy[8] , the following initial complaints were noted:
      • Children younger than 5 years presented with unexplained falls and "drop attacks," aggressive behavior, sudden irritability, and abrupt dropping of objects. Atonic seizures are the most common misdiagnosis in this age group.
      • In children aged 5-10 years, the most common initial complaint was inattentiveness, repetitive sleepiness, followed by difficulty with morning arousal associated with aggressive behavior and abrupt falls in school. These children often were misdiagnosed as having attention deficit hyperactivity disorder (ADHD), learning disability, depression, or another neurologic disorder.
      • In children aged 10-12 years, poor academic performance was a common complaint. Other presenting symptoms included inappropriate low level of alertness, falling asleep in class, and inability to wake up in the morning.
Next

Physical

  • Perform a careful neurologic examination to exclude other causes, including an underlying structural abnormality.
  • No specific findings on physical examination suggest narcolepsy, although obesity may be associated with the disorder.
  • Examining the patient during cataplexy shows appendicular muscle atonia and loss of deep tendon reflexes.
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Contributor Information and Disclosures
Author

Ali M Bozorg, MD  Assistant Professor, Comprehensive Epilepsy Program, Department of Neurology, University of South Florida

Ali M Bozorg, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, and American Epilepsy Society

Disclosure: Nothing to disclose.

Coauthor(s)

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Ortho McNeil Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Speaking, consulting

Specialty Editor Board

Carmel Armon, MD, MSc, MHS  Professor of Neurology, Tufts University School of Medicine; Chief, Division of Neurology, Baystate Medical Center

Carmel Armon, MD, MSc, MHS is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Association of Neuromuscular and Electrodiagnostic Medicine, American Clinical Neurophysiology Society, American College of Physicians, American Epilepsy Society, American Medical Association, American Neurological Association, American Stroke Association, Massachusetts Medical Society, Movement Disorders Society, and Sigma Xi

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Jose E Cavazos, MD, PhD, FAAN  Associate Professor with Tenure, Departments of Neurology, Pharmacology, and Physiology, University of Texas Health Science Center at San Antonio; Co-Director, South Texas Comprehensive Epilepsy Center; Director of the Epilepsy Center, Audie L Murphy Veterans Affairs Medical Center

Jose E Cavazos, MD, PhD, FAAN is a member of the following medical societies: American Academy of Neurology, American Clinical Neurophysiology Society, American Epilepsy Society, American Neurological Association, and Society for Neuroscience

Disclosure: Nothing to disclose.

Paul E Barkhaus, MD  Professor, Department of Neurology, Medical College of Wisconsin; Director of Neuromuscular Diseases, Milwaukee Veterans Administration Medical Center

Paul E Barkhaus, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Neurological Association

Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Ortho McNeil Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Speaking, consulting

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