Narcolepsy

A chronic neurological disorder characterized by the inability to regulate sleep and wake cycles. It can interfere with psychological and social development and disrupt academic and work activities. It has an annual incidence of 50 cases per 100,000 individuals, and although there is no cure, treatment and lifestyle changes allow for the management of the condition.

The cause of narcolepsy is not fully understood; however, studies indicate that it may result from a combination of factors that trigger a lack of hypocretin, a natural chemical that promotes wakefulness and regulates REM sleep in cases of narcolepsy accompanied by cataplexy. Some of the currently suggested causes are as follows:

  • Autoimmune disorders against the brain cells containing hypocretin, likely triggered by environmental factors in genetically predisposed individuals.
  • Traumatic brain injuries, tumors, or other diseases that affect the parts of the brain that regulate wakefulness and REM sleep.

The causes of the type of narcolepsy not accompanied by cataplexy, in which decreased levels of hypocretin have not been observed, are currently unknown.

Additionally, age has been described as a non-genetic risk factor associated with the development of narcolepsy. Generally, narcolepsy begins in individuals between the ages of 10 and 30.

Symptoms

The development and severity of symptoms can vary greatly. Initially, they will appear one by one, possibly separated by long periods. Generally, the initial symptoms are mild, but they worsen with age and may progress at a variable rate. However, although they will never disappear, they may partially improve over time. Additional symptoms of narcolepsy include:

  • Excessive daytime sleepiness (EDS): all people experience this symptom, which is often the most evident. It is characterized by persistent drowsiness in the form of a sudden feeling.
  • Cataplexy: sudden loss of muscle tone while a person is awake, leading to weakness and a loss of voluntary muscle control while maintaining complete awareness. It is often triggered by sudden and strong emotions. It typically appears weeks or years after excessive daytime sleepiness, with attacks of variable frequency that last a few minutes and resolve almost instantaneously on their own.
  • Sleep paralysis: temporary inability to move or speak while falling asleep or waking up, lasting seconds or minutes, with the person remaining fully conscious. After the episodes end, the person fully recovers.
  • Hallucinations: these may accompany sleep paralysis, typically when the person is falling asleep or waking up. The content is often visual, but other senses may also be involved.

Other additional symptoms that may accompany narcolepsy include:

  • Insomnia, vivid dreams, apnea, dream enactment, and periodic limb movements that can disrupt sleep during the night.
  • Episodes of temporary sleep that may last for seconds during an activity and then continue with the activity without being able to remember what occurred or awareness of what they are doing. This often happens during routine activities such as talking, eating, writing, or driving.

Although all cases involve daytime sleepiness, only 10 to 25% will experience all the remaining associated symptoms.

Prevention

There are no effective measures for the prevention of narcolepsy; however, the following lifestyle changes focused on sleep hygiene may be useful and beneficial:

  • Take short, scheduled naps regularly when you tend to feel sleepier.
  • Maintain a regular sleep schedule even on weekends to try to sleep better.
  • Avoid caffeine or alcohol several hours before bedtime.
  • Avoid smoking, especially at night.
  • Exercise daily for at least 20 minutes a day, up to 4 or 5 hours before bedtime. Additionally, maintaining a healthy lifestyle would help avoid excess weight.
  • Avoid heavy and large meals before bedtime, as they make it harder to fall asleep.
  • Relaxing activities before bed can help promote sleep (such as taking a warm bath). Adjust the sleeping space to the appropriate temperature and conditions.

Safety precautions, particularly when driving, are important for people with narcolepsy. Additionally, excessive daytime sleepiness and cataplexy can lead to serious injuries or death if left unchecked in ordinary safe actions, such as going down stairs.

Number of observed variants

13.5 million variants

Number of risk loci

20 loci

Genes analyzed

AGAP1 BARHL2 C2orf16 CADM2 CPEB1 ECE2 EXOC4 HCRTR2 HTR7 L1TD1 NOS1 NR2F1 POM121L2 S100PBP SHISA4 SIL1 STH SUSD4 TLE4 TMEM182 TMEM247 ZFPM2

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