Narcolepsy Symptoms - Featured

Narcolepsy Symptoms, Its Causes, and Treatment

by Dr. Lina Velikova, MD

Narcolepsy is a chronic disease characterized by marked drowsiness during the day and an overall inability to remain awake. Patients will suddenly fall asleep regardless of their circumstances and environment. It usually debuts in one’s teens, although the well-known clinical narcolepsy symptoms are more clearly demonstrated later in life.

Among the other well-known sleep disorders, narcolepsy is particularly impressive due to its unusual symptoms. These are caused by biological factors that are all associated with changes in sleep and alertness. Furthermore, the nature of narcolepsy, the types by which it’s divided, the latest discoveries about the disease, and the most effective treatments to combat its symptoms are even more remarkable.

The Narcolepsy Definition

Narcolepsy, also known as “Gélineau syndrome,” is a neurological sleep disorder that relates to daytime sleepiness and other symptoms associated with changes in one’s sleep rhythms. The term “narcolepsy” was introduced by Jean-Baptiste-Eduard Gellino, who first described this syndrome in 1880. It comes from the Greek words “narkē” and “lepsis” and can be translated as “sleep attack.”

Narcolepsy patients see the disease’s repercussions in more than just their professional lives. Because they’re affected by over-drowsiness, these people are often perceived as lazy. Nevertheless, each person who suffers from narcolepsy has a higher risk of falling and travel accidents than others.

Narcolepsy is usually diagnosed between 7 and 25 years of age, although some subtypes of narcolepsy have a later onset. It occurs in about 0.1% of the population and is equally prevalent among women and men.

Television host and comedian Jimmy Kimmel is a well-known celebrity who suffers from narcolepsy. He once fell asleep during a writers’ meeting for Jimmy Kimmel Live. You can read more information about the bizarre sleep habits of famous people in this infographic.

Possible Narcolepsy Causes

In recent years, the pathogenesis of the condition has been extensively researched. The exact causes of narcolepsy have not yet been fully elucidated. It’s believed that many factors may contribute to the disease’s development (genetic, infectious, neurological, etc).

It’s accepted that narcolepsy has an inherited component. Between 10% and 20% of patients have at least one first-degree relative who also has the disease. However, given the variability of the cases, it wasn’t possible to identify a single gene causing the disease. So is narcolepsy an entirely genetic disorder? Although individual inheritance cases are described often, there’s no family burden.

The disorder could also be associated with genetic changes in chromosomes that determine HLA (human leukocyte antigens), which are fundamental to the immune response.

Scientists have also described a deficiency of the neurotransmitter hypocretin, also known as orexin, which is thought to be relevant to sleep control at the hypothalamus level. In many cases of narcolepsy, low levels of the hormone hypocretin are observed in the cerebrospinal fluid.

An orexin deficiency is more common in people who have narcolepsy with cataplexy and is usually due to the destruction of the hypothalamic neurons that produce it. It’s believed that this destruction is caused by an autoimmune reaction as a consequence of genetic, biological, and environmental factors.

Nongenetic factors may also be crucial in the development of narcolepsy, such as brain damage, infections, contact with pesticides, hormonal changes, stress, or certain types of diet. In this case, the diagnosis of narcolepsy is secondary.

What Are the Main Types of Narcolepsy?

Narcolepsy Symptoms - 5 Types

The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) describes the different kinds of narcolepsy. These are categorized according to the signs and underlying causes, as well as the associated symptoms (which will be more thoroughly covered in the following section).

1. Narcolepsy Type 2

Previously known as narcolepsy without cataplexy, this type is defined by a deficiency in the hormone orexin as well as by notable changes in a patient’s sleep phases. However, no episodes of cataplexy are observed. (Note: cataplexy is associated with a partial or complete loss of muscular control, typically brought on by strong emotion.)

2. Narcolepsy with Cataplexy

In addition to alterations in REM, cataplexy is observed in this rare type of narcolepsy. Meanwhile, the hypocretin levels in the cerebrospinal fluid are normal. This accounts for less than 5% of the cases of narcolepsy.

3. Autosomal Dominant Cerebral Ataxia, Deafness, and Narcolepsy

It’s believed that the cause of this type of narcolepsy is a de novo DNA mutation. The onset of these cases is delayed, usually developing between 30 and 40 years of age.

The term “ataxia” refers to the lack of motor coordination, in this case caused by a change in the cerebellum. In addition to ataxia, deafness, and the standard symptoms of narcolepsy, dementia usually develops as the disease progresses.

4. Autosomal Dominant Narcolepsy Combined with Obesity and Type 2 Diabetes

This subtype is determined by mutations of oligodendrocytes in the DNA. These are glial cells involved in the formation of myelin, a substance that helps send nerve impulses. In these cases, there’s also a low concentration of hypocretin in the cerebrospinal fluid.

5. Narcolepsy That’s Secondary to Another Medical Condition

In some cases, a narcolepsy episode could be a direct consequence of the presence of tumors, trauma, or infections that kill orexin-secreting cells (such as sarcoidosis or Whipple’s disease).

In addition to the types defined here, the DSM-5 distinguishes different levels of narcolepsy. Depending on the frequency of cataplexy, the need for a nap, changes in nighttime sleep patterns, and drug efficacy, these can be defined as mild narcolepsy, moderate, and severe.

What Are Narcolepsy’s Symptoms?

The symptoms vary from patient to patient. Some people experience persistent symptoms, while others experience periods of remission alternating with exacerbations and worse complaints.

Here are the most common symptoms:

Narcolepsy Symptoms - Excessive Sleepiness

  • Excessive daytime sleepiness – This is generally the first symptom that occurs and also the most difficult to overcome.
  • Sleep attacks – The patient suddenly falls asleep on the ground without any warning. The duration of sleep during the attack varies individually.
  • Several sleep attacks a day – This endangers patients since it can happen during activities such as walking, driving, swimming, and so on.

Other symptoms of narcolepsy in adults may include the following:

  • Temporary muscular paralysis – For a while, patients lose control of their muscles, and they cannot move or talk. This condition is known as cataplexy. Cataplexy can be brought about by laughter, excitement, or fright.
  • Difficulty concentrating
  • Restless sleep – Patients often wake up at night and complain of having nightmares.
  • Hallucinations

Considering all those mentioned above, what are the early signs of narcolepsy? The leading symptom is pronounced daytime sleepiness, persisting for at least three months. Unlike most people who might feel drowsy while doing dull and monotonous activities, narcolepsy patients could fall asleep at home or work. This can even happen in dangerous circumstances like while driving or operating machinery.

Among other complaints, the early signs could include temporary muscle paralysis, as well as visual or auditory symptoms. Hallucinations may also occur. Sudden muscle weakness—one of the mild narcolepsy symptoms—can occur in about 75% of cases, lasting anywhere from a few seconds to a few minutes.

There’s a high incidence of various sleep disorders in both children and adults, such as insomnia, sleep apnea, restless legs syndrome, etc. Children with narcolepsy will mainly experience hyperactivity, behavioral aggravation, emotional instability, distraction, or trouble with school activities. The feelings of drowsiness become more pronounced with age, as do the number of times a patient suddenly falls asleep—not to mention the other associated sleep disturbances.

What Happens to the Brain During Narcolepsy?

Narcolepsy is associated with changes in one’s typical sleep structure and frequently waking up. Normal sleep begins with the NREM phase, with slow brain waves. After a couple of hours, it passes into REM, characterized by fast waves. This is the deep sleep phase, during which dreams occur.

Patients with narcolepsy can fall straight into the deep sleep phase, both at night and during the day. Essentially, in narcolepsy, sleep begins directly with the REM phase, accompanied by decreased muscle movement, possibly even paralysis.

How Is Narcolepsy Diagnosed?

Keep in mind that atypical narcolepsy is a challenge to diagnose. Generally, however, diagnosis of the condition is determined after going through the typical clinical visits and providing a full medical history. This data is then cross-referenced with the Epworth Sleepiness Scale. Finally, at least one of the following tests should be performed:

  • Polysomnography – This tracks the brain’s signals during sleep via electrodes placed on the scalp. To carry out a polysomnogram narcolepsy test, the patient needs to spend the night in a healthcare facility.
  • Hypocretin level examination – Patients with narcolepsy have lowered hypocretin levels.
  • Magnetic resonance imaging
  • Additional testing – This can be done through deep-sleep monitoring of a patient’s cardiac functions via ECG, evaluating the brain’s biological activity with an EEG, conducting an EMG test for muscle tone and spasticity, checking ocular movements (electrooculogram), or checking the chest’s respiratory movements with sensory belts.

Narcolepsy Treatment Options

At this time, there’s no cure for narcolepsy. However, patients can control their symptoms with some lifestyle changes. To help protect themselves from excessive daytime sleepiness, patients can sleep a little at regular intervals during the day. The first step in therapy is creating sleeping habits that include eight hours of sleep a night and naps during the day. It’s also essential to build a regular sleep regimen for going to bed at night.

So how often should a person with narcolepsy nap? Planning one, two, or three naps a day for 10–30 minutes at a time significantly reduces overcapacity and improves academic and occupational productivity. This approach is still in the experimental phase, although the results are promising.

It’s important to maintain adequate sleep hygiene: avoid smoking, eating too much, or drinking stimulants within three hours before bed. Also, be sure to exercise daily, restrict alcohol consumption, eat healthily (and cut down on simple carbohydrates), relax before going to bed, and create a soothing sleep environment.

Among the other narcolepsy treatment options, don’t underestimate the benefits of psychological help. This can involve advising the patient, their family, and their employer on the best ways to improve their well-being. All of these suggestions should be designed to minimize any emotional stress the patient may experience in these environments. Educational programs may also be helpful, perhaps in the form of support groups.

Narcolepsy Medication Options

Narcolepsy Symptoms - Medications

There are some notable drugs available on the market for narcolepsy. Most of the symptomatic treatments are used to control sleepiness and improve physical and cognitive performance. However, they all depend on the individual patient’s symptoms. The various medications include tricyclic antidepressants to improve mood, sodium oxybate to control cataplexy, the narcolepsy medication modafinil to prevent sleepiness, and selective serotonin and noradrenaline reuptake inhibitors—such as fluoxetine and venlafaxine—to control cataplexy and reduce hypnotic hallucinations.

Stimulant medications such as modafinil and methylphenidate are known for their use in attention deficit hyperactivity disorder but are also effective in reducing drowsiness. However, for the effect to be maintained, it’s usually necessary to gradually increase the dose—which brings about a higher risk of side effects.

The new narcolepsy medication pitolisant was introduced recently by the European Medicines Agency. It’s among the first class of drugs acting on histamine H3 receptors in the brain. By increasing the released histamine in the body, the molecule stimulates a patient’s sense of alertness.

The Committee for Medicinal Products for Human Use has already evaluated all the available data on the safety, efficacy, and quality of this new narcolepsy treatment, and it’s been approved. Studies showed a positive change in sleep habits and less sleepiness and fatigue during the day. The most common side effects reported are short-term headaches and nausea.

New treatments that focus on the hypocretin hormone currently are in the research phase. Novel trends also include immunotherapy, gene therapy, and orexin substitution.

But what happens if narcolepsy goes untreated? Because narcolepsy is not curable, the treatment of this disorder remains focused on the symptoms. Therefore, if left untreated, the condition remains an unpleasant experience for the patient. However, there are sufficient options that treat each of the symptoms, so most people with narcolepsy can lead a healthy life.

FAQ

Can you just develop narcolepsy?

Both men and women can develop narcolepsy at any age. However, it is typically first noted between the ages of 10 and 30. Although the onset may be gradual or sudden, usually narcolepsy occurs in people who have a genetic predisposition for the condition.

Is Narcolepsy considered a disability?

Narcolepsy is not considered a disability by the Social Security Administration. Therefore, this medical condition will not automatically qualify you for disability benefits. However, you can provide a Residual Functional Capacity assessment that delivers evidence of your disease and how it impacts your ability to work.

Do I have narcolepsy, or am I just tired?

Narcolepsy is not defined solely by often feeling tired. After all, healthy people can become drowsy while taking part in monotonous activities. Instead, narcolepsy patients fall asleep regardless of their environment. People with narcolepsy also suffer from poorly regulated sleep-wake cycles, and they aren’t able to fight the body’s need to sleep.

Can you wake someone with narcolepsy?

People who suffer from narcolepsy fall directly into REM sleep as quickly as they wake up from it. As a result, they may have vivid dreams as soon as they fall asleep as well as right before they wake up. They can be woken up by someone else, but usually they wake up on their own.

Can you die from narcolepsy?

Although narcolepsy leads to considerable drowsiness during the day, the condition is not lethal in and of itself. In some cases, however, unexpected and temporary loss of muscle control, known as cataplexy episodes, can lead to accidents, injuries, or a life-threatening situation.

Conclusion

Narcolepsy is a rare brain disorder where a person falls asleep suddenly and at random times. When you’re aware of it, most narcolepsy symptoms are easy to distinguish. Patients with narcolepsy have trouble staying awake over a long period, regardless of the circumstances. This condition usually hinders the performance of patients’ daily duties. Therefore, it’s essential to take some precautions, and patients and their families should educate themselves on the treatment options.

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