What is narcolepsy?

The first diagnosis of narcolepsy was shared by Jean Baptiste Gelineau in 1880. It is a disease that affects the nervous system and is a lifelong condition. Some medications can treat the symptoms but a complete cure for the disease is not known. If not diagnosed correctly, the disease may cause serious harm to the patient.

The most significant symptom of narcolepsy is the overpowering acute spasms of sleepiness. It is estimated that the disease affects people of both sexes but most of them are undiagnosed. Although the symptoms have no definite age, they usually appear from adolescence.

Narcolepsy is a disease that results from the deficiency of a substance called orexin in the nervous system. There are no psychiatric reasons for the cause of this disease and it does not affect the patient's life directly but it can be transferred genetically.

According to the published reports from various countries, the disease affects 23-190 people per 100,000 people. In 1980, Dr. Saad Rageh carried out a study involving more than 23000 people in the city of Thakbah (KSA). He proved that the disease affects 40 people out of every 100,000. This study underlines the fact that there are thousands of patients in Saudi (and the world over), who are not diagnosed or treated yet.

We found through a published research that the average age of diagnosed patients is 28 years, while the patients range from age 9 years to 65 years. It was also found out that the disease's started showing symptoms at an average age of 20 years, which means that most patients suffered this disease for a period of 8 years prior to being the diagnosis. Presently we have only 55 Saudi patients registered for narcolepsy.

This result reveals the lack of knowledge about narcolepsy among the health sector workers and highlights the patient's plight at being unable to receive specialist consultation and treatment.

What are the problems that a patient suffering from narcolepsy encounters?

A patient with this disease suffers many problems prior to being diagnosed because the disease is ambiguous for many people. The family, teachers, and friends hardly understand the patient's condition; even the patient himself does not understand what he suffers from.

Patients are often judged as lazy and inactive. This in turn affects their mental state, making them short on self-confidence and this reflects negatively in their academic and professional performance.

The disease usually affects young people and sometimes adults. One of the studies we carried out on 50 Saudi patients suffering from narcolepsy (published in the Saudi Medical Magazine), showed that the average age when the symptoms appeared was 20 years. This means that it was approximately 8 years after the onset of the disease, that the diagnosis was finally done.

Since the disease is not common, most people have no idea about which physician can treat them. Moreover, even the physicians have little knowledge about this disease.

What are symptoms of narcolepsy?

There are four main symptoms of narcolepsy. We will discuss these symptoms and provide references to the studies conducted on Saudi patients:

• Increase of sleepiness during daytime:This happens due to uncontrollable and sudden sleep spasms during daytime. These spasms could be dangerous if they happen at inappropriate times and places, for example - while driving or during some important business meetings, etc.

This sleep can range from minutes to more than an hour, followed by feelings of drowsiness. This symptom is the most common one and appears prominently in all patients.

• Sudden paralysis while awake (Cataplexy):This symptom is seen is some rare cases. Here an individual's entire body (or some part of it) becomes paralyzed and the muscles become stiff.

It is a rare condition with a loss of the muscle functions, ranging from slight weakness such as limpness at the neck or knees, sagging facial and jawbone muscles, inability to move the muscles of the arms and the impairment of the speech muscles leading to an inability to speak clearly and in some cases, a full body paralysis.

The patient could fall down and appear unconscious, while he might be completely conscious. This state usually continues for a few minutes but in other cases, it might continue for some minutes. Weakness and paralysis spasms usually occur together in emotional situations such as agitation, anger, happiness, and laughter. These symptoms are seen in 72% of the Saudi patients with this disease.

• Sleep paralysis:It is defined as the inability to move the body or any of its parts either when falling asleep, or when awakening. The paralysis last from few seconds to some minutes. During this period, some patients might be able to ask for help or cry out, but to no avail. The condition is over soon or when someone touches the patient or when there is noise.

This symptom exists in 57% of the Saudis patients we have treated.

• Hypnagogic hallucinations:These vivid, often frightening, dreamlike experiences occur while dozing, falling asleep and/ or while awakening. While normal people start dreaming an hour to an hour and half after sleep onset, those suffering from Hypnagogic hallucinationsstart dreaming at the onset of sleep.

This symptom was discovered in 85% of Saudis with narcolepsy.

The following are some of the other symptoms that the patient could suffer:

• Disturbed nocturnal sleep:Patients may suffer disturbed nocturnal sleep for unknown reasons despite the increase of sleepiness during daytime. This symptom was found in 38% of Saudi patients.
• Automatic behavior: The sleep spasm could take place while the patient continues to do the same job (talking, putting things away, etc.) during the sleep spells, but has no recollection of the same on wakening up. This phenomenon may be serious if the patient does some works like driving etc., which requires concentration.

This symptom was not clear in Saudi patients.

What goes on inside the brain during this strange phenomenon?

It is proved scientifically that sleep consists of many stages. One of these stages is REM and the dreams take place during this stage. This stage in the normal cases starts an hour and half after getting sleep.

Allah (glory be to Him) has created a mechanism inside us to protect us from implementing our dreams, this mechanism is called muscle relaxant. This means that except the diaphragm muscle and eyes muscles, all other muscles of the body are paralyzed during dreams. Even if a person has a dream about considerable muscle effort, the muscle relaxant ensures that there is no actual movement and the person staying on the bed.

This mechanism stops while moving from one stage of the sleep to another. Sometimes the sleeper wakes up during REM while this mechanism (muscle relaxant) is still working, as a result, the person may be fully conscious and aware of the surrounding but cannot move completely.

Patients with narcolepsy enter the REM stage immediately on sleeping. Now, since the person does not go into deep sleep, he feels that the dream is more dynamic and is not able to differentiate it from the reality.

Since patients suffering from disease have a significant increase in REM rate, they can experience this stage or any part of it while they are awake and hence feel sleepy during the day and suffer abrupt paralysis while waking up.

Does this disease affect the student's academic achievement?

This disease does not affect the intelligence or mental capacity directly but may affect their academic achievement indirectly because of excessive sleep and the lack of self-confidence.

All the patients I have examined suffer from low self-esteem because many people misunderstand their condition and term them as lazy and inefficient. This is mainly due to the absence of timely diagnosis of the condition and a lack of awareness about the illness.

It is therefore critical to identify and treat patients as soon as possible. Moreover, family members, teachers, and colleagues, of the patient should be apprised about the patient’s condition.

How is the disease diagnosed?

The patient is asked to undergo an examination of his or her nocturnal sleep. The patient needs to share the complete medical history and undergo clinical evaluations for monitoring several organic functions during sleep to exclude any other causes that might result in excessive sleepiness.

Following the nocturnal study, the patient is required to stay in the sleep centre for another test called the Multiple Sleep Latency Test (MSLT) to be carried out during the daytime. The patient is offered many chances to sleep during this test (4-5 short naps) and the period that the patient needed to sleep and reach REM is calculated during this test.

How to treat the disease?

Although there is no perfect cure for this disease, the goal of the treatment is to control the symptoms.

• Excessive sleepiness:This disorder could be treated through two methods - medication therapy and behavioral therapy.

1. Medication therapy:

Various stimulant drugs can be used, most importantly the ones containing the derivatives of vitamins. A stimulant drug called modafinil is the first line of treatment for narcolepsy because it is the least likely to be abused as a stimulant. Patients that use any of these drugs require full supervision of a specialist.

1. Behavioral therapy:

Modifying the regular schedules for sleeping and waking up. This includes planning sleeps to control attacks of unplanned and sudden sleep. This forms the base for all other treatments.

Strategic naps: Scheduled quick naps (10 to 15 minutes) after meals, if possible

• Sleep paralysis, abrupt paralysis during wakening and hypnagogic hallucination:

Antidepressants are used for treatment. We use these medications because it decreases the REM stage that results in reducing the earlier symptoms. The U.S Food and Drug Administration recently authorized a new drug called Xyrem for critical cases of sleep paralysis where the patients do not respond to initial treatment.

Presently we have three patients that are being treated by this drug and they have showed excellent response, without any side effects.

Ahmed BaHammam, FACP, FCCP
Professor of Medicine
Director, University Sleep Disorders Center
College ofMedicine, King Saud University