Narcolepsy is a disorder marked by excessive daytime sleepiness, uncontrollable sleep attacks, and cataplexy (a sudden loss of muscle tone, usually lasting up to half an hour).
Narcolepsy is the second-leading cause of excessive daytime sleepiness (after obstructive sleep apnea). Persistent sleepiness and sleep attacks are the hallmarks of this condition. The sleepiness has been compared to the feeling of trying to stay awake after not sleeping for two or three days.People with narcolepsy fall asleep suddenly—anywhere, at any time, maybe even in the middle of a conversation. These sleep attacks can last from a few seconds to more than an hour. Depending on where they occur, they may be mildly inconvenient or even dangerous to the individual. Some people continue to function outwardly during the sleep episodes, such as talking or putting things away. But when they wake up, they have no memory of the event.Narcolepsy is related to the deep, dreaming part of sleep known as rapid eye movement (REM) sleep. Normally when people fall asleep, they experience 90 minutes of non-REM sleep, which is then followed by REM sleep. People with narcolepsy, however, enter REM sleep immediately. In addition, REM sleep occurs inappropriately throughout the day.There has been debate over the incidence of narcolepsy. It is thought to affect between one in every 1,000 to 2,000 Americans. The known prevalence in other countries varies, from one in 600 in Japan to one in 500,000 in Israel. Reasons for these differences are not clear.
Causes and symptoms
In 1999 researchers identified the gene that causes narcolepsy. The gene allows cells in the hypothalamus (the part of the brain that regulates sleep behavior) to receive messages from other cells. When this gene is abnormal, cells cannot communicate properly, and abnormal sleeping patterns develop.The disorder sometimes runs in families, but most people with narcolepsy have no relatives with the disorder. Researchers believe that the inheritance of narcolepsy is similar to that of heart disease. In heart disease, several genes play a role in being susceptible to the disorder, but it usually does not develop without an environmental trigger of some sort.While the symptoms of narcolepsy usually appear during the teens or 20s, the disease may not be diagnosed for many years. Most often, the first symptom is an overwhelming feeling of fatigue. After several months or years, cataplexy and other symptoms appear.Cataplexy is the most dramatic symptom of narcolepsy. It affects 75% of people with the disorder. During attacks, the knees buckle and the neck muscles go slack. In extreme cases, the person may become paralyzed and fall to the floor. This loss of muscle tone is temporary, lasting from a few seconds to half an hour, but frightening. The attacks can occur at any time but are often triggered by strong emotions, such as anger, joy, or surprise.Other symptoms of narcolepsy include:
- sleep attacks: short, uncontrollable sleep episodes throughout the day
- sleep paralysis: a frightening inability to move shortly after awakening or dozing off
- auditory or visual hallucinations: intense, sometimes terrifying experiences at the beginning or end of a sleep period
- disturbed nighttime sleep: tossing and turning, nightmares, and frequent awakenings during the night
If a person experiences both excessive daytime sleepiness and cataplexy, a diagnosis may be made on the patient history alone. Laboratory tests, however, can confirm a diagnosis. These may include an overnight polysomnogram—a test in which sleep is monitored with electrocardiography, video, and respiratory parameters. A Multiple Sleep Latency Test, which measures sleep latency (onset) and how quickly REM sleep occurs, may be used. People who have narcolepsy usually fall asleep in less than five minutes.If a diagnosis is in question, a genetic blood test can reveal the existence of certain substances in people who have a tendency to develop narcolepsy. Positive test results suggest, but do not prove, the existence of narcolepsy.Narcolepsy is a complex disorder, and it is often misdiagnosed. It takes 14 years, on average, for an individual to be correctly diagnosed.
There is no cure for narcolepsy. It is not progressive, and it is not fatal, but it is chronic. The symptoms can be managed with medication or lifestyle adjustment. Amphetamine-like stimulant drugs are often prescribed to control drowsiness and sleep attacks. A drug called sodium oxybate (Xyrem) was tested for use in 2004 and was shown to reduce daytime sleepiness as well as cataplexy attacks when used along with stimulants. Patients who do not like taking high doses of stimulants may choose to take smaller doses and “manage” their lifestyles, such as by napping every few hours to relieve daytime sleepiness. Antidepressants are often effective in treating symptoms of abnormal REM sleep.With the recent discovery of the gene that causes narcolepsy, researchers are hopeful that therapies can be designed to relieve the symptoms of the disorder.
Narcolepsy is not a degenerative disease, and patients do not develop other neurologic symptoms. However, narcolepsy can interfere with a person’s ability to work, play, drive, and perform other daily activities. In severe cases, the disorder prevents people from living a normal life, leading to depression and a loss of independence.
Cataplexy — A symptom of narcolepsy in which there is a sudden episode of muscle weakness triggered by emotions. The muscle weakness may cause the person’s knees to buckle, or the head to drop. In severe cases, the patient may become paralyzed for a few seconds to minutes.Hypnagogic hallucinations — Dream-like auditory or visual hallucinations that occur while falling asleep.Hypothalamus — A part of the forebrain that controls heartbeat, body temperature, thirst, hunger, body temperature and pressure, blood sugar levels, and other functions.Sleep paralysis — An abnormal episode of sleep in which the patient cannot move for a few minutes, usually occurring on falling asleep or waking up. Often found in patients with narcolepsy.