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Narcolepsy
Classification and external resources
ICD-10 G47.4
ICD-9 347
OMIM 161400
DiseasesDB 8801
eMedicine neuro/522 
MeSH D009290

Narcolepsy is a neurological condition most characterized by Excessive Daytime Sleepiness (EDS). The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings G00-G99 - Diseases of the Nervous system (G00-G09 Inflammatory diseases of the Central nervous system ( Bacterial meningitis The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The Diseases Database is a free Website that provides information about the relationships between medical conditions Symptoms, and Medications. eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely two medical doctors Medical Subject Headings ( MeSH) is a huge Controlled vocabulary (or metadata system for the purpose of indexing journal articles and books Excessive daytime sleepiness (EDS is characterized by persistent sleepiness and often a general lack of energy even after adequate night time sleep A narcoleptic will most likely experience disturbed nocturnal sleep, which is often confused with insomnia, and disorder of REM or rapid eye movement sleep. Insomnia is a symptom of a sleeping disorder characterized by persistent difficulty falling asleep or staying asleep despite the opportunity It is one of the dyssomnias. Dyssomnias are a broad classification of sleeping disorder that make it difficult to get to sleep or to remain sleeping A narcoleptic may also fall asleep at any random time.

The term narcolepsy derives from the French word narcolepsie created in 1880 by the French physician Jean-Baptiste-Édouard Gélineau (1859-1928) by combining the Greek narke numbness, stupor and lepsis attack, seizure. Jean-Baptiste-Édouard Gélineau (born 1859 in Blaye Gironde died 1928 in Argeles Gazost Pyrnees was the French physician who first described the eponymous disease known in English [1]

Contents

Symptoms

The main characteristic of narcolepsy is excessive daytime sleepiness (EDS), even after adequate night time sleep. A person with narcolepsy is likely to become drowsy or to fall asleep, often at inappropriate times and places. Daytime naps may occur without warning and may be physically irresistible. These naps can occur several times a day. They are typically refreshing, but only for a few hours. Drowsiness may persist for prolonged periods of time. In addition, night time sleep may be fragmented with frequent awakenings.

Four other "classic" symptoms of narcolepsy, which may not occur in all patients, are cataplexy, sleep paralysis, hypnogogic hallucinations, and automatic behavior. Cataplexy is a medical condition which often affects people who have Narcolepsy, a disorder whose principal signsare EDS (Excessive Daytime Sleepiness sleep attacks sleep Sleep paralysis is a common condition characterized by transient partial or total paralysis of skeletal muscles and Areflexia that occurs upon awakening from sleep or less Hypnagogia ( Greek ὕπνος húpnos "sleep" + the root found in ἄγω ágō "to lead away conduct convey" ἀγωγεύς Automatic behavior, from the Greek automatismos or self action is the spontaneous production of often purposeless verbal or motor behavior without conscious self-control or Cataplexy is an episodic condition featuring loss of muscle function, ranging from slight weakness (such as limpness at the neck or knees, sagging facial muscles, or inability to speak clearly) to complete body collapse. Episodes may be triggered by sudden emotional reactions such as laughter, anger, surprise, or fear, and may last from a few seconds to several minutes. Anger is an emotional state that may range from minor irritation to intense rage Fear is an Emotional response to Threats and Danger. It is a basic survival mechanism occurring in response to a specific Stimulus, such as The person remains conscious throughout the episode. Sleep paralysis is the temporary inability to talk or move when waking (or less often, falling asleep). It may last a few seconds to minutes. This is often frightening but is not dangerous. Hypnagogic hallucinations are vivid, often frightening, dreamlike experiences that occur while dozing, falling asleep and/or while awakening. Automatic behavior means that a person continues to function (talking, putting things away, etc. ) during sleep episodes, but awakens with no memory of performing such activities. It is estimated that up to 40 percent of people with narcolepsy experience automatic behavior during sleep episodes. Sleep paralysis and hypnagogic hallucinations also occur in people who do not have narcolepsy, but more frequently in people who are suffering from extreme lack of sleep. Cataplexy is generally considered to be unique to narcolepsy and is analogous to sleep paralysis in that the usually protective paralysis mechanism occurring during sleep is inappropriately activated. The opposite of this situation (failure to activate this protective paralysis) occurs in rapid eye movement behavior disorder. Rapid eye movement sleep behaviour disorder ( RBD) is a Sleep disorder (more specifically a Parasomnia) that involves abnormal behavior during the Sleep

In most cases, the first symptom of narcolepsy to appear is excessive and overwhelming daytime sleepiness. The other symptoms may begin alone or in combination months or years after the onset of the daytime naps. There are wide variations in the development, severity, and order of appearance of cataplexy, sleep paralysis, and hypnagogic hallucinations in individuals. Only about 20 to 25 percent of people with narcolepsy experience all four symptoms. The excessive daytime sleepiness generally persists throughout life, but sleep paralysis and hypnagogic hallucinations may not.

Although these are the common symptoms of narcolepsy, many (although less than 40% of people with narcolepsy) also suffer from insomnia for extended periods of time. Insomnia is a symptom of a sleeping disorder characterized by persistent difficulty falling asleep or staying asleep despite the opportunity

The symptoms of narcolepsy, especially the excessive daytime sleepiness and cataplexy, often become severe enough to cause serious problems in a person's social, personal, and professional life.

Normally, when an individual is awake, brain waves show a regular rhythm. When a person first falls asleep, the brain waves become slower and less regular. This sleep state is called non-rapid eye movement (NREM) sleep. The Sleep stages 1 through 4 are collectively referred to as NREM (non-rapid eye movement sleep After about an hour and a half of NREM sleep, the brain waves begin to show a more active pattern again. This sleep state, called REM sleep (rapid eye movement sleep), is when most remembered dreaming occurs. Dreams are the images sounds thoughts and feelings experienced while Sleeping, particularly strongly associated with Rapid eye movement sleep. Associated with the EEG-observed waves during REM sleep, muscle atonia is present (called REM atonia).

In narcolepsy, the order and length of NREM and REM sleep periods are disturbed, with REM sleep occurring at sleep onset instead of after a period of NREM sleep. Thus, narcolepsy is a disorder in which REM sleep appears at an abnormal time. Also, some of the aspects of REM sleep that normally occur only during sleep — lack of muscular control, sleep paralysis, and vivid dreams — occur at other times in people with narcolepsy. For example, the lack of muscular control can occur during wakefulness in a cataplexy episode; it is said that there is intrusion of REM atonia during wakefulness. Sleep paralysis and vivid dreams can occur while falling asleep or waking up. Simply put, the brain does not pass through the normal stages of dozing and deep sleep but goes directly into (and out of) rapid eye movement (REM) sleep. This has several consequences:

Causes

While the cause of narcolepsy has not yet been determined, scientists have discovered conditions that may increase an individual's risk of having the disorder. Specifically, there appears to be a strong link between narcoleptic individuals and certain genetic conditions. One factor that may predispose an individual to narcolepsy involves an area of Chromosome 6 known as the HLA complex. The human leukocyte antigen system ( HLA) is the name of the Major histocompatibility complex (MHC in humans There appears to be a correlation between narcoleptic individuals and certain variations in HLA genes, although it is not required for the condition to occur.

Certain variations in the HLA complex are thought to increase the risk of an auto-immune response to protein-producing neurons in the brain. Autoimmunity is the failure of an organism to recognize its own constituent parts as self, which results in an immune response against its own cells and tissues Proteins are large Organic compounds made of Amino acids arranged in a linear chain and joined together by Peptide bonds between the Carboxyl The protein produced, called hypocretin or orexin, is responsible for controlling appetite and sleep patterns. Orexins, also called hypocretins, are the common names given to a pair of highly excitatory Neuropeptide Hormones that were simultaneously discovered by Orexins, also called hypocretins, are the common names given to a pair of highly excitatory Neuropeptide Hormones that were simultaneously discovered by Individuals with narcolepsy often have reduced numbers of these protein-producing neurons in their brains.

The neural control of normal sleep states and the relationship to narcolepsy are only partially understood. In humans, narcoleptic sleep is characterized by a tendency to go abruptly from a waking state to REM sleep with little or no intervening non-REM sleep. The changes in the motor and proprioceptive systems during REM sleep have been studied in both human and animal models. Proprioception (ˌproʊpriːəˈsɛpʃən PRO -pree-o-SEP-shun from Latin proprius, meaning "one's own" and perception is the Sense During normal REM sleep, spinal and brainstem alpha motor neuron depolarization produces almost complete atonia of skeletal muscles via an inhibitory descending reticulospinal pathway. Alpha motor neurons ( α-MNs) are large Lower motor neurons of the Brainstem and Spinal cord. In biology depolarization is a decrease in the Absolute value of a cell's Membrane potential. In Medicine, atony (or "atonia" or "atonic" refers to a Muscle that has lost its strength Skeletal muscle is a type of Striated muscle, which usually attaches to tendons Acetylcholine may be one of the neurotransmitters involved in this pathway. The Chemical compound acetylcholine (often abbreviated ACh) is a Neurotransmitter in both the Peripheral nervous system (PNS and Central See Chemical synapse for an introduction to concepts and terminology used in this article In narcolepsy, the reflex inhibition of the motor system seen in cataplexy is believed identical to that seen in normal REM sleep.

In 2004 researchers in Australia induced narcolepsy-like symptoms in mice by injecting them with antibodies from narcoleptic humans. The research has been published in the Lancet providing strong evidence suggesting that some cases of narcolepsy might be caused by autoimmune disease. [2]

Narcolepsy is strongly associated with HLA DQB1*0602 genotype. The genotype is the genetic constitution of a cell an organism or an individual (i [3] There is also an association with HLA DR2 and HLA DQ1. This may represent linkage disequilibrium. In Population genetics, linkage disequilibrium is the non-random association of Alleles at two or more loci, not necessarily on the same Chromosome

Despite the experimental evidence in human narcolepsy that there may be an inherited basis for at least some forms of narcolepsy, the mode of inheritance remains unknown.

Some cases are associated with genetic diseases such as Niemann-Pick disease[4] or Prader-Willi syndrome[5]. Niemann-Pick Disease is one of a group of Lysosome storage diseases that affect Metabolism and that are caused by genetic mutations Prader-Willi syndrome (abbreviated PWS) is a very rare Genetic disorder, in which seven genes (or some subset thereof on chromosome 15 are missing or unexpressed

Epidemiology

It is estimated that as many as 3 million people worldwide are affected by narcolepsy. In the United States, it is estimated that this condition afflicts as many as 200,000 Americans, but fewer than 50,000 are diagnosed. The United States of America —commonly referred to as the It is as widespread as Parkinson's disease or multiple sclerosis and more prevalent than cystic fibrosis, but it is less well known. Parkinson's disease (also known as Parkinson disease or PD) is a degenerative disorder of the Central nervous system that often impairs the sufferer's Multiple sclerosis (abbreviated MS also known as disseminated sclerosis or encephalomyelitis disseminata) is an autoimmune condition in which the Cystic fibrosis (also known as CF, mucoviscoidosis, or mucoviscidosis) is a hereditary disease affecting the exocrine (mucus glands of the lungs Narcolepsy is often mistaken for depression, epilepsy, or the side effects of medications. Major depressive disorder, also known as major depression, unipolar depression, unipolar disorder, clinical depression, or simply depression Epilepsy is a common chronic Neurological disorder that is characterized by recurrent unprovoked seizures. In Medicine, an adverse effect is a harmful and undesired effect resulting from a medication or other intervention such as Chemotherapy or Surgery. It can also be mistaken for poor sleeping habits, recreational drug use, or laziness.

Narcolepsy can occur in both men and women at any age, although its symptoms are usually first noticed in teenagers or young adults. There is strong evidence that narcolepsy may run in families; 8 to 12 percent of people with narcolepsy have a close relative with this neurologic disorder.

Narcolepsy has its typical onset in adolescence and young adulthood. There is an average 15-year delay between onset and correct diagnosis which may contribute substantially to the disabling features of the disorder. Diagnosis is the identification by Process of elimination, of the nature of anything Cognitive, educational, occupational, and psychosocial problems associated with the excessive daytime sleepiness of narcolepsy have been documented. For these to occur in the crucial teen years when education, development of self-image, and development of occupational choice are taking place is especially damaging. While cognitive impairment does occur, it may only be a reflection of the excessive daytime somnolence.

The prevalence of narcolepsy is about 1 per 2,000 persons[6]. It is a reason for patient visits to sleep disorder centers, and with its onset in adolescence, it is also a major cause of learning difficulty and absenteeism from school. Normal teenagers often already experience excessive daytime sleepiness because of a maturational increase in physiological sleep tendency accentuated by multiple educational and social pressures; this may be disabling with the addition of narcolepsy symptoms in susceptible teenagers. In clinical practice, the differentiation between narcolepsy and other conditions characterized by excessive somnolence may be difficult. Treatment options are currently limited. There is a paucity in the literature of controlled double-blind studies of possible effective drugs or other forms of therapy. The blind method is a part of the Scientific method, used to prevent research outcomes from being influenced by either the Placebo effect or the Observer Mechanisms of action of some of the few available therapeutic agents have been explored but detailed studies of mechanisms of action are needed before new classes of therapeutic agents can be developed.

Narcolepsy is an underdiagnosed condition in the general population. This is partly because its severity varies from obvious to barely noticeable. Some people with narcolepsy do not suffer from loss of muscle control. Others may only feel sleepy in the evenings.

Diagnosis

Diagnosis is relatively easy when all the symptoms of narcolepsy are present. But if the sleep attacks are isolated and cataplexy is mild or absent, diagnosis is more difficult. It is also possible for cataplexy to occur in isolation.

Two tests that are commonly used in diagnosing narcolepsy are the polysomnogram and the multiple sleep latency test (MSLT). Polysomnogram (PSG is a multi-channel ("poly" recording ("gram" during sleep ("somno" resulting from a sleep test Polysomnography. History The Multiple Sleep Latency Test was created in 1977 by sleep pioneer William C These tests are usually performed by a sleep specialist. The polysomnogram involves continuous recording of sleep brain waves and a number of nerve and muscle functions during nighttime sleep. When tested, people with narcolepsy fall asleep rapidly, enter REM sleep early, and may awaken often during the night. The polysomnogram also helps to detect other possible sleep disorders that could cause daytime sleepiness.

For the multiple sleep latency test, a person is given a chance to sleep every 2 hours during normal wake times. Observations are made of the time taken to reach various stages of sleep (sleep onset latency). In sleep science sleep onset latency (SOL is the length of time that it takes to accomplish the transition from full wakefulness to sleep normally to the lightest sleep stage non-REM This test measures the degree of daytime sleepiness and also detects how soon REM sleep begins. Again, people with narcolepsy fall asleep rapidly and enter REM sleep early.

Coping with narcolepsy

Learning as much about narcolepsy as possible and finding a support system can help patients and families deal with the practical and emotional effects of the disorder, possible occupational limitations, and situations that might cause injury. A variety of educational and other materials are available from sleep medicine or narcolepsy organizations.

Support groups exist to help persons with narcolepsy and their families.

To imagine what a person with narcolepsy copes with daily, keep in mind that while many are not sleep-deprived (in the classical sense), a major symptom of narcolepsy is akin to sleep deprivation in a normal person; as a normal person, imagine going years functioning off just 3-4 hours of sleep per night. While lifestyle changes and drug therapy can help largely mitigate many symptoms of narcolepsy, there currently exists no complete and permanent solution, therefore patience, empathy and self-education are excellent coping tools.

Individuals with narcolepsy, their families, friends, and potential employers should know that:

Doctors generally agree that lifestyle changes can be very helpful to those suffering with narcolepsy. Suggested self-care tips, from the National Sleep Foundation, University at Buffalo, and Mayo Clinic, include:

Narcolepsy in popular culture

Narcolepsy has been used by some as a form of humor. Humour or humor (see spelling differences) is the tendency of particular cognitive experiences to provoke Laughter and provide Amusement Depictions of the disorder can range greatly in accuracy.

See also

References

  1. ^ Entry Narcolepsy. in the Online Etymology Dictionary. Cataplexy is a medical condition which often affects people who have Narcolepsy, a disorder whose principal signsare EDS (Excessive Daytime Sleepiness sleep attacks sleep Dyssomnias are a broad classification of sleeping disorder that make it difficult to get to sleep or to remain sleeping Orexins, also called hypocretins, are the common names given to a pair of highly excitatory Neuropeptide Hormones that were simultaneously discovered by A microsleep is an episode of Sleep lasting for a fraction of a second or up to a few seconds This is a list of notable people who have Narcolepsy. While sources are provided for each name on the list each source should be evaluated to determine how reliable it is Douglas Harper, Historian. 18 Sep 2007.
  2. ^ BBC News article.
  3. ^ Maret, S; Tafti M (November 2005). "Genetics of narcolepsy and other major sleep disorders". Swiss Medical Weekly 135 (45-46): 662–665. EMH Swiss Medical Publishers Ltd. . PMID 16453205.  
  4. ^ Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C.
  5. ^ Hypersomnia in the Prader Willi syndrome.
  6. ^ Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system.
  7. ^ christian explains in the movie "Unfortunately, the unconscious Argentinean suffered from a sickness called Narcolepsy" http://www.geocities.com/talentedprotegee/scriptframes.htm
  8. ^ Ben Folds Song Explanations http://www.benfoldsfive.com/thesongs.html

Sources

External links

Dictionary

narcolepsy

-noun

  1. (pathology) A disorder characterized by sudden and uncontrollable attacks of deep sleep, often brief, sometimes accompanied by paralysis and hallucinations
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