Narcolepsy:
The Differential Diagnosis
of Sleepiness and Fatigue
Neil T. Feldman, M.D., Sleep Disorders Center at Palms
of Pasadena Hospital, St. Petersburg, Florida
Introduction
Narcolepsy is a chronic central nervous system (CNS) disorder of unknown etiology that is characterized by excessive daytime sleepiness (EDS), hypnogogic hallucinations, cataplexy, sleep paralysis, and disrupted nocturnal sleep. Mistakenly considered a rare disorder, it is now estimated that one in every one to two thousand Americans may be afflicted with this disease, a prevalence approximating that of multiple sclerosis. 1 The symptoms of this disorder adversely impact the psychological and social functioning of those afflicted, and is especially debilitating because the disease onset occurs most often in the second and third decade of life, a time of increasing responsibility at school and work. The diagnosis and treatment are often delayed because the complaint of fatigue and sleepiness is often not taken seriously. It is often attributed to events surrounding the psychosocial milieu of the individual, even though the complaint of excessive daytime sleepiness always has an organic, nonfunctional explanation when an organized clinical evaluation is attempted. Both the primary care physician and the specialist play a pivotal role in screening and making appropriate referrals for narcolepsy and other disorders of excessive sleepiness. A high index of suspicion will lead to earlier diagnosis and treatment of this disabling disorder.
Disease Description
Narcolepsy results from a dysregulation of sleep and wakefulness. In narcolepsy control of the onset and offset of both rapid eye movement (REM) and non-REM sleep is impaired. REM sleep occurs at sleep onset and intrudes into wakefulness producing the auxiliary symptoms of the narcoleptic tetrad, which include excessive daytime sleepiness, hypnogogic hallucinations, sleep paralysis, and cataplexy. EDS is generally the most disabling symptom of narcolepsy. 2 This symptom, however, does not differentiate patients with narcolepsy from those with other disorders associated with EDS. Hypnogogic hallucinations, sleep paralysis, and disrupted nocturnal sleep are seen in other sleep disorders and occasionally in normals, but cataplexy is highly specific for narcolepsy, and, if present, establishes the diagnosis. 3 These symptoms of narcolepsy severely compromise normal activities and quality of life. Excessive daytime sleepiness increases the risk of serious automobile or machine accidents. Embarrassment and falls may result from cataplectic attacks and the symptoms of narcolepsy often result in individuals being viewed as poorly motivated or depressed making school challenging or the work place a difficult and uncomfortable environment. Such adversity may lead to psychological symptoms such as low self-esteem, social isolation and shame. The diagnosis is not generally made until adulthood but symptoms often appear in adolescence and have been noted in persons as young as three years. Onset appears to peak about age 15 with a second peak about age 36. Initially the disease progresses in severity but then stabilizes and is a chronic life long illness without remission.
In normal individuals sleep unfolds in a non-REM/REM cycle of approximately ninety minutes duration, with REM sleep periods of increasing length. In the narcoleptic, however, the abnormal REM sleep pattern is marked by sleep onset REM periods (SOREMPs). The observation of SOREMPs in the sleep laboratory distinguishes narcolepsy from other disorders of excessive sleepiness.
Human narcolepsy may not be a single disease. Experiments in canine models of narcolepsy suggest an autosomal recessive pattern of inheritance. Studies indicate that narcolepsy in humans is not strongly genetic. 4 A lack of concordance in monozygotic twin pairs with narcolepsy indicates that environmental factors play an important role. Data in humans shows that first-degree relatives of narcoleptic patients have a higher incidence of narcolepsy than the general population (1-2% versus .01%). More recent studies indicate that narcolepsy may be due to a deficiency of the neurotransmitter hypocretin. In canine models of narcolepsy Mignot and colleagues have established that the dog lacks the receptor protein for hypocretin, which is located on a limited number of neurons in the hypothalamus. 5 In genetically engineered mice with narcolepsy there appears to be an absence of the hypocretin neurotransmitter. In humans, evaluation of the cerebrospinal fluid reveals an absence of hypocretin in ninety percent of narcoleptics. In addition, a study of human brain from autopsy specimens indicates that hypocretin producing neurons from the hypothalamus are absent. In light of the fact that narcolepsy is associated with subtypes of human leukocyte antigen markers, it has been suggested that environmental factors induce an autoimmune response to hypocretin containing neurons leading to a hypocretin deficiency that results in the characteristic symptoms of the disease.
Recognizing Symptoms of Narcolepsy
Excessive Daytime Sleepiness (EDS): EDS is common with estimates in the general population ranging from one to five percent. 6 Sleepiness has a circadian tendency with peaks of sleepiness in midafternoon and early morning. In normals, if the sleep need is satisfied, the tendency to doze during periods of idleness or boring situations is greatly reduced. Sleepiness indicates a sleep disorder when it persists and cannot be resolved by increasing amounts of sleep. Patients with the complaint of fatigue and sleepiness should be asked about their bedtime, wake up time, and napping behavior to determine if sleep deprivation is the cause. Patients will often explain their sleepiness using social or occupational demands to explain or justify this symptom. The astute clinician will ignore these trivial explanations and come to his own conclusion regarding the patient's sleep wake behavior.
Cataplexy: Cataplexy results when the atonia of REM sleep intrudes into wakefulness. It occurs in about two thirds of patients with narcolepsy and the severity of the symptom is quite variable. The symptom is very important because it is pathognomic for narcolepsy. Cataplectic attacks are triggered by emotion such as laughter, excitement, and anger. Attacks of cataplexy may be partial or complete. Limited attacks affect the face or neck muscles and are characterized by drooping eyelids, sagging jaw, or an inclined head. Speech may be slurred or stuttering. More complete episodes may result in a buckling of the knees and a fall. During a cataplectic episode the narcoleptic is fully aware of their surroundings but cannot move. The duration of the episode, whether partial or complete, may vary from a few seconds to thirty minutes. Cataplexy may occur only a few times in a lifetime with very strong emotion or may be totally disabling with multiple attacks in a given day. Cataplexy may not occur for the first time until months to years after the onset of EDS. 7
Sleep Paralysis: Approximately sixty percent of individuals with narcolepsy report the experience of sleep paralysis. The frequency of episodes varies from a few lifetime events to daily episodes. The episodes are frequently accompanied by vivid dreams. Sleep paralysis may be hypnopompic or hypnogogic. During an episode the patients find themselves unable to move their extremities or to speak, respiratory distress is rare as phrenic nerve function is preserved.
Hypnogogic Hallucinations: Vivid dreams described as hallucinations occur at the onset of nocturnal sleep, but may also occur during daytime naps or inadvertent sleep episodes. Approximately seventy percent of narcoleptics experience these hallucinations, which occasionally occur in association with sleep paralysis.
Fragmented Night Sleep: Although patients with narcolepsy fall asleep quite easily, they paradoxically often experience insomnia. At least sixty percent of patients with narcolepsy report severe disruption of nocturnal sleep. Many of the patients will present with an insomnia complaint and delay the diagnosis of narcolepsy if it is not considered in the differential diagnosis.
Other Manifestations: Approximately fifty percent of narcoleptic patients experience automatic behavior with retrograde amnesia. 8 Automatic behavior occurs when sleep has partially overtaken the brain, but the body continues to perform familiar tasks without conscious awareness of doing them. These episodes are sometimes confused with partial complex seizures. Periodic leg movements during nocturnal sleep occur with a higher incidence in narcoleptics than in the general population.
http://www.dcmsonline.org/jax-medicine/2001journals/March2001/Narcolopsy.htm
2007-09-12 03:14:21
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answer #1
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answered by Anonymous
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Narcolepsy is a form of epilepsy in which the seizures are actually periods that look like sleep. These seizures come at random times and depending on the severity of your case either once in a while or several times a day. It can be treated by medication.
Take a look at this site: http://www.ninds.nih.gov/disorders/narcolepsy/narcolepsy.htm
2007-09-12 03:13:35
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answer #2
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answered by mommanuke 7
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Narcolepsy is a pathological condition, whereby the sufferer falls asleep suddenly, and without warning (possibly doing something like driving a car). It is related to epilepsy, and can be treated with drugs.
2007-09-12 03:13:03
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answer #3
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answered by AndrewG 7
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2016-10-10 10:43:39
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answer #4
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answered by Anonymous
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