Narcolepsy: Symptoms, Diagnosis and Treatment

Narcolepsy, or Gelino's disease, is a peculiar disease of the nervous system, characterized by sleep disturbances in the form of bouts of daytime sleepiness, which can not be resisted. With this disease a person can fall asleep at the most inopportune moment: at the wheel of the car, at the time of passing the exam and so on. In addition to episodes of obsessive daytime sleep, narcolepsy is characterized by a number of other symptoms.

To diagnose the disease requires additional methods of research, such as polysomnography and the test of multiple sleep latencies. Completely get rid of this disease at this time can not. However, a number of drugs can reduce the manifestations of the disease. In this article we will talk about the causes, symptoms, methods of diagnosis and methods of treating narcolepsy.

General information

Narcolepsy is a relatively rare disease. The prevalence is 20-40 cases per 100 000 population. It is believed that this disease affects both female and male gender. However, according to some information, men get sick more often.

The essence of the disease consists in episodic attacks of daytime sleep, which can be accompanied by loss of muscle tone of the whole body or individual muscle groups, hallucinations, disturbance of night sleep. Fits of sleep during the day, you can say, take a person by surprise. Suddenly there is an irresistible desire to fall asleep, which can not be overcome. A person falls asleep in an uncomfortable position, anywhere. After sleeping for a while (which can be completely different: from a few minutes to several hours), a person wakes up on his own and feels rested. However, after a while, the attack repeats again. Such a situation can be reproduced several times a day, which, of course, significantly impairs life activity.

What causes such a strange and untimely sleep offense? Let's find out.

Causes

Narcolepsy is the pathology of sleep. And for a dream in the human body is the brain. Consequently, the cause of the disease lies somewhere in the brain.

A number of studies in recent years have revealed that narcolepsy occurs when there is a lack of a special substance of orexin (hypocretin). Orexin is a neurotransmitter of the brain responsible for wakefulness. People and animals suffering from narcolepsy have a decrease in its content in the cerebrospinal fluid (cerebrospinal fluid).

Why there is a decrease in the production of orexin, is still not known. The main hypothesis is that the main role in the development of narcolepsy is played by a hereditary predisposition (according to the system of histocompatibility genes of HLA). Presumably, certain HLA gallotypes trigger the destruction of neurons producing orexin in the hypothalamus region.

It is known that in narcolepsy, the structure of sleep, that is, the relationship between the phases of slow and fast sleep, is disturbed. The phase of fast sleep becomes excessive and comes faster than normal. A decrease in the activity of the brain activating system contributes to the onset of periods of fast sleep even during the period wakefulness, which is manifested by the clinical symptoms of falling asleep at the wrong place and at the wrong time.

Scientists believe that to implement the gene mechanism of violations in narcolepsy only hereditary predisposition is not enough. There must still be provoking factors. These include:

• craniocerebral trauma of any severity;
• infectious diseases;
• hormonal changes in the body (violation of the activity of endocrine glands, pregnancy);
• Excessive emotions (both positive and negative).

It is necessary to understand that all these are just assumptions, some of which have instrumental confirmation. A weighty reason and an exact mechanism of development are still beyond the understanding of scientists.

Symptoms

People with narcolepsy suddenly develop attacks of daytime drowsiness, which they can not cope with and fall asleep anywhere and in the situation.

The disease occurs at the age of 5 to 50 years, but often debuts to 30 years. The main manifestation of the disease are recurrent attacks of daytime sleep. These seizures can be combined with the presence of a number of other symptoms, but not necessarily the simultaneous presence of all of them.

So, the main signs of narcolepsy are:

• daytime sleep;
• attacks of cataplexy (below we will find out what are these seizures and what are characterized);
• hallucinations associated with periods of falling asleep and awakening;
• problems of night sleep.

Let's talk about each symptom in more detail.

Daytime sleep

They can occur at any time during the day, but by the evening usually drowsiness is less than during the day. The person begins to sleep, and sleep wants so much that almost no action can stop the onset of sleep. Washing your face with cold water, active movements, tingling yourself, smoking and other similar actions can only delay the onset of sleep a little.

Sleeping occurs at any stop. Of course, sleep is more conducive to monotonous work, reading a book, watching TV, listening to boring lectures. However, an important conversation at work, staying at the helm of the car, participating in a quarrel and similar situations do not conflict with the onset of sleep. Simply put, sleep occurs in any situation and situation, even the most inadequate. It is possible (but not necessary) to continue performing any actions, but already asleep person (for example, already falling asleep, the person continues to drive the car).

The duration of sleep is different. If a person stays at home, it can be a clock, and if he is in an uncomfortable environment, then the dream lasts only a few minutes. When a person wakes up, he feels rather cheerful and can quickly get involved in a sleep interrupted activity. In principle, the patient during an attack is easy to wake up (the same as in normal sleep). But after a while the attack repeats again.

The frequency of attacks during the day varies from one to several. Most often, such attacks attack patients about 10-12 hours and after lunch.

Patients are aware of everything that happens to them, that is, they understand that they have been sleeping, but they can not help it.

Attacks of cataplexy

The term "cataplexy" is understood as the sudden loss of muscle tone and strength in the striated muscle (skeletal) muscles. The phenomenon can be generalized, with the capture of all muscle groups, and then it is accompanied by a fall, a loss of ability to speak, complete immobility. If cataplexy develops in separate muscular arrays, then individual motor functions are selectively lost. For example, the head hangs, legs fall, the objects fall out of the hands.

Consciousness with cataplexy is not violated. A person understands that he is falling down or can not perform some action, but is powerless to do anything about it.

On average, the attack lasts a few seconds, less often - minutes. However, repeated recurrence of such seizures is possible. If the seizures go one after another with little or no gap, or it is very short, then a condition called cataplectic status develops.

Cataplexy attacks can occur on their own, spontaneously, and can be provoked by emotions, both positive and negative. Quite often, attacks of cataplexy provoke laughter, fury, sexual intercourse.

During the attack of cataplexy tendon reflexes decrease, sweating, reddening or paleness of the skin, heart rate slows down. If the head hangs during an attack, then it is possible even to impede self-breathing.

Cataplexy attacks accompanying awakening and falling asleep are called sleep paralysis (or, respectively, cataplexy of awakening and falling asleep). These are such episodes when immediately before falling asleep or immediately after awakening a person can neither move nor utter a word. Only blinking and movement with the eyes are possible. Typically, sleepy paralysis occurs in connection with night sleep, although it can rarely be the case with daytime episodes of sleep.

Cataplexy attacks do not occur in the onset of a disease. Usually it takes a while, while there are only daytime bouts of sleep. Narcolepsy acquires a certain "length of service", and then there are attacks of cataplexy.

Hallucinations

This symptom is present in about a third of patients with narcolepsy. It is the appearance of visual, auditory, taste, olfactory, tactile hallucinations. Visual images occur most often. Hallucinations occurring during sleep are called hypnagogic, and during awakening hypnagogic. Hypnagogic hallucinations occur much more often.

Basically, this symptom is inherent in the period of night sleep (as well as sleep paralysis), but sometimes it is possible for it to occur during daytime seizures.

Hallucinations are mostly intimidating, accompanied by violent emotions and prevent a person from falling asleep. As they are repeated, there is a fear of falling asleep at night, a fear of remaining in the dark room and so on (depending on the content of hallucinations).

Night Sleep Problems

This symptom is observed in half the cases of narcolepsy. It is difficult for patients to fall asleep (in part, hallucinations may be the culprits), the dream itself is very shallow. People with narcolepsy often wake up in the middle of the night and can not fall asleep again. The dream itself is accompanied by bright dreams that can become the cause of awakening. In this case, it can not be said that the patients get enough sleep during the day (during daytime sleep attacks). Absolutely not, and the lack of a normal night's sleep affects the well-being of people. Chronic fatigue develops, patients complain of headaches, memory impairment, decreased attention and ability to concentrate.

Diagnostics

Of course, in the diagnosis of narcolepsy, the primary role belongs to the patient's complaints and anamnesis of the disease. However, this is not enough. For reliable confirmation of the diagnosis, additional methods of investigation are needed: polysomnography and a test of multiple sleep latencies.

Polysomnography performs a video recording of sleep with simultaneous registration of physiological parameters of the body: electrocardiograms, electroencephalograms, muscle contractions, respiratory movements and a number of other indicators. Usually it takes a whole night in the laboratory. According to the results of the research, the received data are processed using a computer. This study aims to exclude other causes of sleep disturbance. The next day after polysomnography, a multiple sleep latency test is performed.

The test for multiple sleep latencies is as follows: the patient is given 4-5 attempts to fall asleep during the day. One try is 20 minutes. The intervals between attempts are 2 hours. At this time, a number of body parameters are also recorded, the phases of sleep (fast and slow) are recorded. In narcolepsy, the phase of fast sleep sets in very quickly, and changes in the structure of sleep, other than normal, occur. The presence of such changes in the absence of other signs of sleep disturbance in polysomnography confirms the diagnosis of narcolepsy.

Treatment

Narcolepsy is an incurable disease. Completely get rid of the disease is not yet possible. However, a number of medications can reduce the number of episodes of daytime sleep, normalize night sleep, remove attacks of cataplexy and hallucinations.

To eliminate daytime sleepiness, use Modafinil (Alertec, Modalert, Provigil). It is prescribed for 100-200 mg in the morning. If the dose is not enough, and during the day there are episodes of sleep, then additionally prescribe 100 mg at 12-13 hours of the day (not later!). Although taking an additional dose of the drug carries the risk of a night's sleep disturbance. The drug is not addictive and rather well tolerated. However, there is one nuance for the inhabitants of Russia: the drug is not produced on its territory and is banned from import (from 2012).

In addition to Modafinil, Sydnocarb (20-50 mg per day), Indopan (30-60 mg per day), Meridil (10-30 mg per day) are used to treat daytime sleepiness. The drugs are psychostimulants and are prescribed by courses for 3-4 weeks followed by a gradual cancellation within 2-3 weeks. Then the courses are repeated.

To normalize a night's sleep, you may need to take sleeping pills, although their effectiveness in narcolepsy is low.

To eliminate attacks of cataplexy and hallucinations use antidepressants. The most effective were tricyclic antidepressants: Imipramine (Melipramine, Tofranil), Clomipramine (Anafranil). Clomipramine is most commonly used. The dose is 25-150 mg, taken once in the morning. The use of antidepressants can almost completely eliminate cataplexic seizures and hypnagogic hallucinations.

Currently, a study of the effectiveness of nasal spray based on orexin. It was developed by American scientists. The drug has already shown its effectiveness when used in animals. Probably, soon thanks to this development narcolepsy will cease to be incurable disease.

Patients with narcolepsy are recommended to strictly observe the sleep regime, that is, go to bed and wake up in one and at the same time, and also have a short daytime nap after lunch (lasting no more than 30 minutes).

Separately I would like to say that people suffering from narcolepsy should not drive a car, work at height or with moving mechanisms, since they can cause damage not only to themselves, but also to those around them in case of falling asleep.

Thus, narcolepsy is a pathology of sleep with a peculiar clinical picture. The disease has not yet learned to treat radically, but some steps in this direction have already been made. Patients with this pathology should not despair. It is necessary to reconsider some moments of one's life, to slightly change the way of life and adapt to existing problems. The disease itself does not endanger life, if we exclude situations in which falling asleep can be risky.

The first channel, the program "Live Healthily" with Elena Malysheva on "Narcolepsy. How to defeat the "sleepy" disease? ":