Narcolepsy
Narcolepsy is a chronic neurological sleep disorder that disrupts the normal sleep-wake cycle, causing excessive daytime sleepiness and sudden muscle weakness.
Overview
Narcolepsy is a chronic sleep disorder that disrupts the body's normal sleep-wake cycle. Although the condition can appear at any age, it most frequently begins during adolescence. Most signs and symptoms persist throughout life, though certain symptoms like cataplexy may become less frequent with age and treatment.
Symptoms & Types
Some individuals with narcolepsy experience all major features of the disorder, while others may only have one or two. The primary characteristics include:
- Excessive daytime sleepiness: Affected individuals feel tired during the day and experience overwhelming urges to sleep. These "sleep attacks" can occur at unusual times, such as during meals or conversations, lasting from a few seconds to a few minutes.
- Cataplexy: A sudden loss of muscle tone in response to strong emotions like laughter, surprise, or anger. These episodes of muscle weakness can cause slumping or falling, occasionally leading to injury. They typically last a few seconds and can occur from several times a day to a few times a year.
- Disrupted nighttime sleep: Most affected individuals have trouble sleeping for more than a few hours at night.
- Hallucinations and vivid dreams: Realistic and distressing dreams, often accompanied by vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals may also talk or move excessively in their sleep, acting out their dreams.
- Sleep paralysis: An inability to move or speak for a short period while falling asleep or awakening, which can be frightening and unpleasant.
Based on these symptoms, researchers distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.
Frequency
Narcolepsy affects approximately 1 in 2,000 people in the United States and Western Europe, though it is likely underdiagnosed in mild cases. Worldwide, it appears to be most common in Japan, where it affects an estimated 1 in 600 people.
Causes & Genetic Factors
Narcolepsy likely results from a combination of genetic and environmental factors. In most cases of narcolepsy with cataplexy (and some without), sleep abnormalities stem from the loss of specific neurons in the hypothalamus. These cells normally produce chemicals called hypocretins (also known as orexins), which regulate the daily sleep-wake cycle. The exact trigger for the death of these neurons is unclear, though evidence points to an immune system abnormality.
Several genes have been identified that influence the risk of developing narcolepsy:
- HLA-DQB1: This gene belongs to the human leukocyte antigen (HLA) complex, which helps the immune system distinguish the body's own proteins from foreign invaders. A specific variation called HLA-DQB1*06:02 is strongly associated with narcolepsy, particularly in individuals with cataplexy and a loss of hypocretins.
- Other genes: Variations in several additional genes, many of which play roles in immune system function, make small contributions to the overall risk of developing the disorder.
Environmental factors, such as bacterial or viral infections like strep throat (streptococcus), colds, and influenza, are also thought to play a role in triggering narcolepsy in genetically predisposed individuals.
Inheritance
Most cases of narcolepsy are sporadic, occurring in people with no family history of the disorder. A small percentage of cases run in
