Edit concept Question Editor Create issue ticket

Narcolepsy-Cataplexy Syndrome

Narcolepsy with Cataplexy

The narcolepsy-cataplexy syndrome is a condition characterized by excessive daytime sleepiness and sudden but brief episodes of sleep accompanied by loss of muscle tone. Loss of hypothalamic neurons that secrete hypocretin is the underlying cause, but the mechanism remains unclear. The diagnosis is made through polysomnography and the multiple sleep latency test and determination of hypocretin levels in the cerebrospinal fluid. Amphetamines, methylphenidate, modafinil, and sodium-oxybate are used in therapy.

Narcolepsy-Cataplexy Syndrome - Symptom Checker

Ad Check possible symptoms of Narcolepsy-Cataplexy Syndrome now!

Presentation

Symptoms start usually during the second decade of life, peaking at 14 years of age, while a second peak is shown to be around age 35 [18] [20]. Additionally, patients that have a positive family history for narcolepsy have shown a significant predilection toward an early onset of the condition [20]. The first symptom is excessive daytime sleepiness accompanied by fragmented sleep during the night [26]. Cataplexy, defined as sudden and brief (ranging between 5 and 30 seconds) partial or total loss of muscle tone triggered by emotional stimuli (laughter, surprise or anger) [3], may appear together with narcolepsy, but its onset is sometimes delayed for years or even decades [18]. However, it is rarely the first symptom of this condition [18]. Cataplexy may involve isolated muscle groups or it can be generalized, resulting in falling and the collapse of the individual and in rare cases, prolonged loss of muscle tone is described, known as status cataplectic [3]. Hallucinations, both visual and auditory, are also an integral component of the clinical presentation, as both hypnagogic (at sleep onset) and hypnopompic (upon awakening) may be present [3]. A subjective sense of clumsiness, slurred speech, weakness, and muscle twitches are reported prior to the attack [3].

Excessive Daytime Sleepiness
  • The first symptom is excessive daytime sleepiness accompanied by fragmented sleep during the night.[symptoma.com]
  • The diagnosis in children remains challenging. [ 17 ] Diagnostic criteria [ 4 ] For narcolepsy with cataplexy: Excessive daytime sleepiness, almost daily for 3 months.[patient.info]
  • Further Reading Excessive Daytime Sleepiness Travelling with Medications[nodss.org.au]
  • Typically, cataplexy does not develop for months or even years after the first signs of excessive daytime sleepiness, but in rare cases it is the first observed symptom of narcolepsy.[narcolepsy.org.uk]
Weakness
  • Without much warning, the person loses muscle tone and can have a slack jaw, broken speech, buckled knees or total weakness in their face, arms, legs, and trunk.[sleepfoundation.org]
  • Partial weakness - specifically ask patients about partial weakness (eg, mild facial or jaw weakness), which they may not report.[patient.info]
  • Cataplexy is the term given to sudden muscular weakness triggered by strong emotions such as laughter, anger and surprise.[narcolepsy.org.uk]
  • Polysomnography Multiple sleep latency testing Doctors suspect narcolepsy when people with excessive daytime sleepiness have had episodes of muscle weakness.[merckmanuals.com]
  • Attacks can range in severity from a brief sensation of weakness to total physical collapse lasting several minutes.[nodss.org.au]
Fatigue
  • Also physicians often misdiagnose narcolepsy, mistaking the symptoms for those of other disorders, like depression, chronic fatigue syndrome, or obstructive sleep apnoea.[nodss.org.au]
  • Because hypocretin plays such an important role in regulating sleep, its deficiency leads to symptoms such as excessive daytime sleepiness, disturbed night sleep, fatigue and the eventual appearance of sleep attacks simultaneously with sudden loss of[symptoma.com]
  • Excessive fatigue is a common complaint and is described by those affected as being a different symptom to sleepiness. [ 9 ] Automatism occurs in many narcolepsy patients - when affected by severe sleepiness, they may have episodes in which they appear[patient.info]
  • A person with signs of narcolepsy will experience extreme fatigue and may fall asleep at odd and inappropriate times, such as during work or school. A brief nap is generally refreshing, but the sleepiness re-occur rapidly a few hours later.[stanfordhealthcare.org]
  • This herb reduces fatigue, anxiety and depression. It has been used to strengthen the blood vessels, improve the flow of blood and nutrients into the brain and assist in normalizing your sleeping patterns.[articles.mercola.com]
Hypersomnia
  • Idiopathic hypersomnia without cataplexy or REM sleep abnormalities may represent a third phenotype, although most cases of idiopathic hypersomnia are probably unrelated to the HLA-D linked gene.[ncbi.nlm.nih.gov]
  • The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary[books.google.de]
  • The hypersomnia is not better explained by another condition (sleep disorder, medical or neurological condition, mental disorder, substance misuse or medication).[patient.info]
  • Hypersomnias are subdivided into Idiopathic Hypersomnia (persistent sleepiness lasting more than 3 months without abnormal tendencies to enter REM sleep) and Recurrent Hypersomnia (recurrent episodes of sleepiness that are entirely reversible in between[stanfordhealthcare.org]
  • In case of atypical or incomplete cataplexy, other causes of sleepiness must be taken into account, such as chronic insufficient sleep, idiopathic hypersomnia (see this term) or narcolepsy without cataplexy (see this term).[orpha.net]
Weight Gain
  • Other, non specific, clinical signs include hypnagogic hallucinations, sleep paralysis, insomnia, hypnopompic hallucinations and weight gain.[orpha.net]
  • Weight gain also seems to be more common in people with narcolepsy. How may narcolepsy affect my life? Narcolepsy affects different people in different ways. Some people can have more severe symptoms than others.[patient.info]
  • The weight gain may be related to a low metabolism. Jan. 12, 2019[mayoclinic.org]
  • Side effects from the use of antidepressants vary and can include nausea, weight gain, anxiety or decreased emotions, drowsiness, sexual dysfunction and changes in blood pressure.[msunites.com]
Sore Throat
  • (Normally, our body makes antibodies to fight infections - for example, when we catch a cold or have a sore throat. These antibodies help to kill the cells of the germs (bacteria), viruses or other germs causing the infection.[patient.info]
Palpitations
  • Autonomic symptoms have been reported in narcoleptic patients and include pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache[patient.info]
  • These medications can produce side effects similar to that of caffeine, such as agitation, nervousness, and palpitations. They are generally started at a low dose and increased gradually as needed.[my.clevelandclinic.org]
Hypotension
  • Autonomic symptoms have been reported in narcoleptic patients and include pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache[patient.info]
Muscle Twitch
  • A subjective sense of clumsiness, slurred speech, weakness, and muscle twitches are reported prior to the attack.[symptoma.com]
Night Sweats
  • Autonomic symptoms have been reported in narcoleptic patients and include pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache[patient.info]
Night Sweats
  • Autonomic symptoms have been reported in narcoleptic patients and include pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache[patient.info]
Blurred Vision
  • Slurred speech and visual symptoms such as blurred vision or diplopia may be experienced. Hearing, awareness and consciousness are intact.[patient.info]
  • Other complaints associated with narcolepsy may include eye disturbances due to sleepiness, such as blurred vision, double vision, and droopy eyelids.[medicinenet.com]
  • vision, diplopia, ptosis Management Pre-planned 'catnaps' throughout day, analeptics–ie, long-term stimulants–eg, methylphenidate, dextroamphetamine or tricyclic antidepressants that inhibit re-uptake of norepinephrine and serotonin; MAOIs may eventually[medical-dictionary.thefreedictionary.com]
Diplopia
  • Slurred speech and visual symptoms such as blurred vision or diplopia may be experienced. Hearing, awareness and consciousness are intact.[patient.info]
  • […] have HLA-DR2 and/or HLA-DQw1 Clinical Narcolepsy tetrad; if accompanied by cataplexy, Pt feels a sense of absolute urgency for sleep in often inappropriate situations–while standing, eating, carrying on conversations, accompanied by blurred vision, diplopia[medical-dictionary.thefreedictionary.com]
Ptosis
  • HLA-DR2 and/or HLA-DQw1 Clinical Narcolepsy tetrad; if accompanied by cataplexy, Pt feels a sense of absolute urgency for sleep in often inappropriate situations–while standing, eating, carrying on conversations, accompanied by blurred vision, diplopia, ptosis[medical-dictionary.thefreedictionary.com]
Pupillary Abnormality
  • Autonomic symptoms have been reported in narcoleptic patients and include pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache[patient.info]
Visual Hallucination
  • Other features of the full narcolepsy/cataplexy syndrome include sleep paralysis, auditory and/or visual hallucinations and automatic behaviour.[isleephealth.com.au]
  • We present a 7-year-old girl with ROHHAD who displayed the classic features of narcolepsy with cataplexy: excessive daytime sleepiness with daytime naps, visual hallucinations, and partial cataplexy reflected in intermittent loss of facial muscle tone[pediatrics.aappublications.org]
  • Hypnagogic hallucinations are dream-like auditory or visual hallucinations upon falling asleep or dozing. Sleep paralysis is the feeling of being paralyzed (unable to move) upon falling asleep or awakening from sleep.[hypersomniafoundation.org]
  • Hypnagogic hallucinations — Dream-like auditory or visual hallucinations that occur while falling asleep.[medical-dictionary.thefreedictionary.com]
Auditory Hallucination
Suicidal Ideation
  • Modafinil - MHRA warnings [ 23 ] Avoid use if Stop treatment if there are serious skin or hypersensitivity reactions or psychiatric disorders such as suicidal ideation.[patient.info]
Incontinence
  • Side effects include nausea, vomiting, dizziness, urinary incontinence (involuntary urination), and sleepiness.[merckmanuals.com]
Sleep Attack
  • The sleeping attacks may last a few minutes or even up to half an hour or longer, but upon waking up from a sleep attack the patient usually reports of feeling recovered and refreshed. ( Narcolepsy Sleep Attack – Image Courtesy of www.healthtopia.net[bedroom.solutions]
  • Sometimes sleepiness occurs so suddenly and with such overwhelming power that it is referred to as a 'sleep attack' .[nodss.org.au]
  • You have no control over the sleepiness and you can have sleep attacks where you fall asleep with no warning. These sleep attacks or naps can happen a number of times a day and can last from a few minutes to an hour.[patient.info]
  • Sleep attacks Sleep attacks – falling asleep suddenly and without warning – are also common in people with narcolepsy. They may occur at any time. The length of time a sleep attack lasts will vary from person to person.[nhs.uk]
  • In fully developed narcolepsy there are sleep attacks and paralytic attacks. The latter occur oftenest on emotion and are then called cataplexy. The most striking occurrence is on laughter.[jamanetwork.com]
Headache
  • The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary[books.google.de]
  • Adverse effects included nausea, dizziness, headaches, anxiety and depression. An association was found between development of the disease and the presence of allele DQB1*0602.[ejhp.bmj.com]
  • It must be taken twice a night (once before bedtime and again three or four hours later), but can cause numerous side effects, such as headaches , nausea, dizziness, confusion and depression .[articles.mercola.com]
  • Dry mouth, nausea, anxiety, headaches, and insomnia are most common adverse effects, while serious drug-induced rashes - Stevens-Johnson syndrome and toxic epidermal necrolysis have been reported in rare cases.[symptoma.com]
  • Autonomic symptoms have been reported in narcoleptic patients and include pupillary abnormalities, fainting spells, erectile dysfunction, night sweats, gastric problems, low body temperature, systemic hypotension, dry mouth, heart palpitations, headache[patient.info]
Slurred Speech
  • A subjective sense of clumsiness, slurred speech, weakness, and muscle twitches are reported prior to the attack.[symptoma.com]
  • Slurred speech and visual symptoms such as blurred vision or diplopia may be experienced. Hearing, awareness and consciousness are intact.[patient.info]
  • Typical symptoms are: the jaw dropping the head slumping down legs collapsing uncontrollably slurred speech double vision or finding it difficult to focus Cataplexy attacks are usually triggered by an emotion, such as excitement, laughter, anger or surprise[nhs.uk]
  • This condition, called cataplexy (KAT-uh-plek-see), can cause a number of physical changes, from slurred speech to complete weakness of most muscles, and may last up to a few minutes.[mayoclinic.org]
  • It may only affect certain muscle groups and result in slurred speech, buckling of the knees, or weakness in the arms. Consciousness is maintained throughout the episode but the patient is usually unable to speak.[msunites.com]
Automatic Behavior
  • behavior Hallucinations that are hypnagogic in nature Impaired sleep at night ( Narcolepsy and Halllucinations – Image Courtesy of journal.frontiersin.org ) Cataplexy is typically characterised by a prompt loss of muscle tone in all of the patient’s[bedroom.solutions]
  • Definition: A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA.[hon.ch]
  • Automatic behavior may occur in 60% to 80% of patients with narcolepsy. Automatic behavior is when patients carry out certain actions without conscious awareness, often with the unusual use of words (irrelevant words, lapses in speech).[medicinenet.com]
  • Some people with narcolepsy experience automatic behavior during brief episodes of narcolepsy.[mayoclinic.org]
  • Automatic behaviors --continuing to perform routine tasks without any awareness or later memory of ever doing them (examples: writing a letter, doing homework, cooking, cleaning, driving) Other symptoms reported by children and adolescents with narcolepsy[my.clevelandclinic.org]
Sleep Disturbance
  • Medication: Prescription medications are available to treat excessive daytime sleepiness, cataplexy, sleep disturbances, and hallucinations. Avoid caffeine in the late afternoon and evening so that nighttime sleep is not impacted.[my.clevelandclinic.org]
  • [tachycardia, hypertension] , Mood - altering [irritability, lability], Cognitive [racing thoughts] , tolerance, dependence, headache, GIT side-effects, sleep disturbance,hepatic dysfunction.[ajns.paans.org]
  • ., Sleep disturbances and hypocretin deficiency in Niemann-Pick disease type C. Sleep, 2003. 26(4): p. 427-30. 29. Challamel, M.J., et al., Narcolepsy in children. Sleep, 1994. 17(8 Suppl): p. S17-20. 30.[scholarpedia.org]

Workup

The diagnostic workup comprises a meticulous patient history that includes the onset of symptoms and their features, as well as tests that evaluate sleeping patterns. Current guidelines recommend that every patient suffering from excessive daytime sleepiness accompanied by cataplexy should conduct the multiple sleep latency test (MSLT), a diagnostic procedure composed of five scheduled 20-minutes naps every two hours during the day in hospital conditions [14]. Presence or absence of REM sleep and the time necessary to fall asleep is recorded during this time and criteria for the diagnosis are: falling asleep within eight minutes across five naps and onset of REM during the first 15 minutes of sleep (termed sleep-onset REM, or SOREM) on two separate occasions [14]. Prior to initiation of MSLT, nocturnal polysomnography is performed to assess features such as sleeping time, movements, heart rate, and breathing, while actigraphy and sleeping logs may provide useful information as well [14]. If results from sleep studies, together with clinical signs and symptoms, point to the narcolepsy-cataplexy syndrome, CSF levels of hypocretin should be determined, as they are universally reduced in these patients [21] [22]. Finally, genetic studies confirming HLA-DQB1 mutations solidify the diagnosis, but it must be kept in mind that other comorbid conditions harboring HLA-DQB1 mutations should be excluded, most importantly MS, which is why physicians must perform a detailed physical examination and all necessary diagnostic procedures to rule out other conditions that have a similar clinical presentation [14]. Major depression, obstructive sleep apnea, bipolar and mood disorders, Parkinson's and Alzheimer's diseases and schizophrenia must be ruled out on the basis of their criteria [14].

Treatment

Current therapeutic principles focus on the resolution of symptoms, which is performed by using various pharmacologic agents. Namely, drugs that act on the monoaminergic system and thus promote the activity of dopamine and noradrenaline are used for managing excessive daytime sleepiness and the two most commonly used drugs are amphetamines and methylphenidate [10] [14]. Depending on the formulation, daily doses range between 10-60 mg, but various side-effects have been documented, including hypertension, production or exacerbation of psychiatric conditions such as anxiety, mania and psychosis, weight loss and tics [14]. Addiction can be a significant issue, which is why careful assessment and monitoring of patients is necessary [14]. In addition to these agents, modafinil, approved in the United States for the treatment of excessive sleepiness related to narcolepsy, has shown to be an effective agent by promoting wakefulness, but its exact mechanism of action is unknown [15]. Dry mouth, nausea, anxiety, headaches, and insomnia are most common adverse effects, while serious drug-induced rashes - Stevens-Johnson syndrome and toxic epidermal necrolysis have been reported in rare cases [14]. Gamma-hydroxybutyric acid salt, known as sodium oxybate, may be used for cataplexy as well [10]. In lower doses, it inhibits the GABAergic system, whereas stimulation of dopamine release occurs at higher doses [14]. Because of the presumed role of serotonin, noradrenaline and dopamine in the pathogenesis of narcolepsy-cataplexy syndrome, various antidepressants including selective serotonin reuptake inhibitors (SSRIs) and tricyclics (TCAs), but also monoamine-oxidase (MAO) inhibitors have been used in therapy as well, with variable success [14].

Prognosis

Numerous complications may occur during daily life, as sudden onset of sleep can happen during driving, working with dangerous equipment at work, or during class in school, resulting in severe socio-occupational difficulties [18]. Significant adjustments are necessary to minimize the risk of adverse events, as some of them may even be life-threatening. Unfortunately, the diagnosis of the narcolepsy-cataplexy syndrome is often delayed for a significant period of time [19], which can significantly affect the quality of the patient's life.

Etiology

Several theories regarding the etiology of the narcolepsy-cataplexy syndrome exist, but most recent studies suggest a multifactorial model [3] [6]. The loss of a small subset of neurons that synthesize hypocretin in the postero-lateral aspect of the hypothalamus is confirmed as the principal event in narcolepsy-cataplexy syndrome [3]. Namely, hypocretin is shown to be one of the most important mediators of sleep, wakefulness, energy homeostasis and feeding behavior [15]. The mechanisms that lead to this phenomenon, however, remains to be elucidated. A strong association between HLA-DQB1*0602 mutations and this condition has been discovered throughout the past few decades [5], which supports the autoimmune origin of neuronal loss in the hypothalamus. Additional research has confirmed T-cell receptor α (the major receptor for HLA-peptide presentation) polymorphisms [7], reduced expression of purinergic receptor subtype 2Y11 (P2RY11) gene involved in modulating the activity of CD8+ T-lymphocytes and natural killer (NK) cells, but also the presence of anti-streptolysin O (ASO) antibodies, which implies that the streptococcal antigen may be the trigger of narcolepsy [9]. Furthermore, anti-tribbles homolog 2 (TRIB2) autoantibodies are detected in patients who develop cataplexy shortly after narcolepsy, suggesting that they play an important role in the pathogenesis of this syndrome as well [6] [16].

Epidemiology

Prevalence rates of the narcolepsy-cataplexy syndrome are estimated between 0.02%-0.05% in the general population [10]. In Europe, a prevalence rate of 47 per 100,000 individuals has been established (corresponding to a 0.00047%) [11]. A significant ethnic predisposition has been proposed in studies that further determined a prevalence rate of 0.59% and 0.00023% in the Japanese and Israeli Jews, respectively [12]. Reports from Hong Kong indicate that 0.034% of the local population suffers from this disorder [14]. Family history has shown to be the most important risk factor for narcolepsy-cataplexy, as prevalence rates are 10-40 times higher in families with members suffering from this condition compared to the general population [17]. At this moment, gender predilection is not established [18].

Sex distribution
Age distribution

Pathophysiology

Loss of neuronal circuits that secrete hypocretins 1 and 2 (or orexins A and B) is the hallmark of the narcolepsy-cataplexy syndrome [3]. Hypocretins are peptides secreted from the postero-lateral aspect of the hypothalamus and act through monoamine G-coupled receptors in various brain regions, including the locus coeruleus, the raphe and tuberomammillary nuclei and the tegmental areas responsive to various neurotransmitters [3]. It is hypothesized that the loss of hypocretins has a profound effect on the dopaminergic, histaminergic, serotonergic and noradrenergic systems [3], which leads to the appearance of various signs and symptoms associated with sleep and muscle tone. The most probable cause of neuronal loss is an autoimmune reaction, having in mind the fact that virtually all patients have HLA-DQB1*0602 mutations, while the roles of ASO and anti-TRIB2 antibodies, as well as increased expression of P2RY11, remain to be confirmed [6] [9] [16].

Prevention

Current preventive strategies are unknown.

Summary

Initially described almost 150 years ago [1] [2], the narcolepsy-cataplexy syndrome is a clinical entity in which sudden and brief attacks of sleep and loss of muscle tone occurs, while excessive daytime sleepiness and hallucinations appear in the clinical presentation as well [3]. The cause seems to be multifactorial, involving genetic, environmental, but also autoimmune factors [3] [4]. Current theories propose that autoimmune-mediated loss of a small group of hypothalamic neurons that produce hypocretin, a neuropeptide involved in regulation of sleep and wakefulness, is the principal cause of this syndrome, while mutations of HLA-DQB1*0602 (seen in 95% of cases), aberrations in t-cell receptors and presence of antistreptolysin O antibodies further solidify this hypothesis [5 [6] [7] [8] [9]. The overall prevalence is estimated at 0.02-0.05%, with significant differences across world [10], varying from 0.00047% in Europe to 0.54% in Japan [11] [12]. Because hypocretin is involved in numerous physiological processes regarding sleep, wakefulness and other neurological functions, its absence cause significant changes in the dopaminergic, noradrenergic and histaminergic neurotransmitter systems [3]. The appearance of narcolepsy - excessive daytime sleepiness (accompanied by fragmented nocturnal sleep and the presence of limb movements during sleep), and cataplexy - sudden but brief loss of muscle tone after severe emotional stimuli such as laughter, are consequences of hypocretin deficiency [3] [10]. Symptoms most frequently appear before age 20, but the onset may occur during the third, fourth and fifth decade of life as well [13]. Both visual and auditory hallucinations may appear, together with slurred speech and a sense of clumsiness that can precede the attack [14]. The diagnosis is made through evaluation of sleep by polysomnography and multiple sleep latency test (MSLT), while cerebrospinal fluid levels of hypocretin and genetic testing for HLA mutations further solidify the diagnosis [14]. It must be noted that other comorbid conditions, mainly of psychiatric nature, may be present concomitantly, whereas HLA mutations may be seen in multiple sclerosis (MS) [14], which suggests that the workup of patients must be thorough. The goal of therapy is to reduce the burden of symptoms in daily life and amphetamine, methylphenidate, modafinil and sodium-oxybate are used to promote wakefulness through various mechanisms [14]. Because significant adverse events may occur in daily life (falling asleep when driving or handling equipment during work), timely recognition and treatment are necessary.

Patient Information

The narcolepsy-cataplexy syndrome is a condition characterized by excessive daytime sleepiness, fragmented night sleep and attacks of sleep (narcolepsy) accompanied by sudden loss of muscle tone lasting between 5 and 30 seconds, medically termed cataplexy. The cause seems to stem from the deficiency of hypocretin, one of the most important mediators of wakefulness and sleep that are released from the brain. Most recent discoveries suggest that an autoimmune reaction to the nerves that release hypocretin occurs and causes the syndrome, but the exact mechanism remains unknown. However, almost 95% of patients possess genetic mutations of molecules involved in regulation of the immune system (known as a human leukocytic antigen, or HLA), suggesting that the disease may have a multifactorial origin. The disorder affects approximately 0.02-0.05% of the general population, but significant ethnic predilections have been established. Namely, a much higher rate of the disease is seen in Japan compared to Europe and people of Jewish ancestry and the explanation is yet to be discovered. Because hypocretin plays such an important role in regulating sleep, its deficiency leads to symptoms such as excessive daytime sleepiness, disturbed night sleep, fatigue and the eventual appearance of sleep attacks simultaneously with sudden loss of either isolated muscle groups or the whole body. These attacks are brief and may be triggered by an excessive emotional stimulus (anger, humor, surprise), while both visual and auditory hallucinations can appear either before or after the attack. To make the diagnosis, procedures that evaluate sleep are performed. Nocturnal polysomnography, which serves to assess breathing, heart rate, movement, and brain activity of the patient during sleep and multiple sleep latency test are used. Once a presumptive diagnosis is made based on the obtained results, levels of hypocretin in cerebrospinal fluid and presence of specific HLA mutations should be determined, so that appropriate treatment may be initiated. The role of therapy is to alleviate symptoms of excessive sleepiness and drugs that are recommended for narcolepsy-cataplexy syndrome are amphetamines, methylphenidate, modafinil, and sodium-oxybate, but because drugs possess various side effects (hypertension, rash, addiction, dry mouth, nausea, but also induction of psychiatric symptoms such as mania and anxiety), careful evaluation and long-term monitoring of patients is vital. This syndrome may significantly impair the quality of life of patients, primarily because these attack can occur when performing tasks that require a high level of focus (driving, working with delicate equipment, or during classes), which forces them to make major adjustments in their occupation, but also education. For this reason, early recognition of the disease is essential.

References

Article

  1. Westphal C. Eigentümliche mit Einschlafen verbundene Anfälle. Archiv für Psychiatrie und Nervenkrankheiten. 1877;7:631–5.
  2. Gélineau J. De la narcolepsie. Gazette des Hôpitaux. 1880;53:626–8.
  3. Plazzi G, Pizza F, Palaia V, et al. Complex movement disorders at disease onset in childhood narcolepsy with cataplexy. Brain. 2011;134(12):3477-3489.
  4. Palaia V, Poli F, Pizza F, et al. Narcolepsy with cataplexy associated with nocturnal compulsive behaviors: a case-control study. Sleep. 2011;34(10):1365-1371.
  5. Mignot E, Lin L, Rogers W, et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet. 2001;68:686–699.
  6. Kawashima M, Lin L, Tanaka S, et al. Anti-Tribbles homolog 2 (TRIB2) autoantibodies in narcolepsy are associated with recent onset of cataplexy. Sleep. 2010;33:869–874.
  7. Hallmayer J, Faraco J, Lin L, et al. Narcolepsy is strongly associated with the T-cell receptor alpha locus. Nat Genet. 2009;41:708–711.
  8. Kornum BR, Kawashima M, Faraco J, et al. Common variants in P2RY11 are associated with narcolepsy. Nat Genet. 2011;43:66–71.
  9. Aran A, Lin L, Nevsimalova S, Plazzi G, Hong SC, Weiner K. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep. 2009;32:979–983.
  10. Billiard M. Narcolepsy: current treatment options and future approaches. Neuropsychiatr Dis Treat. 2008;4(3):557-566.
  11. Cvetkovic-Lopes V, Bayer L, Dorsaz S, et al. Elevated Tribbles homolog 2-specific antibody levels in narcolepsy patients. J Clin Invest. 2010;120:713–719.
  12. Wing YK, Li RH, Lam CW, et al. The prevalence of narcolepsy among Chinese in Hong-Kong. Ann Neurol. 2002;51:578–584.
  13. Ohayon MM, Ferini-Strambi L, Plazzi G, Smirne S, Castronovo V. How age influences the expression of narcolepsy. J Psychosom Res. 2005;59:399–405.
  14. Peacock J, Benca RM. Narcolepsy: clinical features, co-morbidities & treatment. Indian J Med Res. 2010;131:338-349.
  15. Schwartz JR, Nelson MT, Schwartz ER, et al. Effects of modafinil on wakefulness and executive function in patients with narcolepsy experiencing late-day sleepiness. Clin Neuropharmacol. 2004;27:74–79.
  16. Ohayon MM, Priest RG, Zulley J, et al. Prevalence of narcolepsy symptomatology and diagnosis in the European general population. Neurology. 2002;58:1826–1833.
  17. Ohayon MM, Ferini-Strambi L, Plazzi G, Smirne S, Castronovo V. Frequency of narcolepsy symptoms and other sleep disorders in narcoleptic patients and their first-degree relatives. J Sleep Res. 2005;14:437–445.
  18. American Academy of Sleep Medicine. International classification of sleep disorders: Diagnostic and coding manual, 2nd ed. Westchester, IL: American Academy of Sleep Medicine; 2005.
  19. Morrish E, King MA, Smith IE, Shneerson JM. Factors associated with a delay in the diagnosis of narcolepsy. Sleep Med. 2004;5:37–41.
  20. Dauvilliers Y, Montplaisir J, Molinari N, et al. Age at onset of narcolepsy in two large populations of patients in France and Quebec. Neurology. 2001;57:2029–2033.
  21. Black J, Houghton WC. Sodium oxybate improves excessive daytime sleepiness in narcolepsy. Sleep. 2006;2:939–46.
  22. Mignot E, Lammers GJ, Ripley B, et al. The role of cerebrospinal fluid hypocretin measurement in the diagnosis of narcolepsy and other hypersomnias. Arch Neurol. 2002;59(10):1553-1562.

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!
Last updated: 2018-06-21 19:37