Narcolepsy, Type 1 (Q41286): Difference between revisions
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Narcolepsia do Tipo 1 é um transtorno de sonolência excessiva devido à deficiência de sinalização da hipocretina hipotalâmica (orexina). Além dos períodos diários de necessidade incontrolável de dormir ou lapsos de sono diurnos, a narcolepsia do tipo 1 é caracterizada por sintomas de dissociação do sono REM, mais importantemente a cataplexia. Cataplexia é a perda súbita e incontrolável do tônus muscular surgindo durante a vigília que é tipicamente desencadeada por uma emoção forte, como excitação ou risada. Embora a cataplexia seja um sintoma patognomônico da narcolepsia do tipo 1, ela pode não se manifestar até anos depois do início da sonolência. Em tais casos, o diagnóstico de narcolepsia do tipo 1 pode ser feito baseado nos níveis de hipocretina no líquido cefalorraquidiano (LCR) < 110 picogramas por mililitro. Episódios de paralisia do sono e alucinações hipnagógicas ou hipnopômpicas também podem estar presentes. O transtorno não é atribuível a uma doença do sistema nervoso ou outra condição clínica._x000D_ _x000D_ Nota: um diagnóstico definitivo requer períodos diários de necessidade irreprimível de dormir ou lapsos diurnos de sono somado a ou: a) cataplexia e teste das latências múltiplas do sono/ polissonografia (TMLS/PSG) com achados característicos de narcolepsia; ou b) deficiência demonstrada de hipocretina no LCR. | |||
| description / en | description / en | ||
Type 1 narcolepsy is a disorder of excessive sleepiness due to a deficiency of hypothalamic hypocretin (orexin) signaling. In addition to daily periods of irrepressible need to sleep or daytime lapses into sleep, type 1 narcolepsy is characterised by symptoms of REM sleep dissociation, most importantly cataplexy. Cataplexy is a sudden and uncontrollable loss of muscle tone arising during wakefulness that is typically triggered by a strong emotion, such as excitement or laughter. Although cataplexy is a pathognomonic symptom of type 1 narcolepsy, it may not manifest until years following onset of the sleepiness. In such cases, a diagnosis of narcolepsy, type 1 may be made based on cerebrospinal fluid (CSF)-hypocretin levels < 110 picograms per milliliter. Episodes of sleep paralysis and hypnagogic or hypnopompic hallucinations may also be present. The disorder is not attributable to a disease of the nervous system or other medical condition. Note: A definitive diagnosis requires daily periods of irrepressible need to sleep or daytime lapses into sleep plus either: a) cataplexy and multiple sleep latency test/polysomnography (MSLT/PSG) findings characteristic of narcolepsy; or b) demonstrated CSF hypocretin deficiency. | |||
Revision as of 07:24, 13 August 2026
Type 1 narcolepsy is a disorder of excessive sleepiness due to a deficiency of hypothalamic hypocretin (orexin) signaling. In addition to daily periods of irrepressible need to sleep or daytime lapses into sleep, type 1 narcolepsy is characterised by symptoms of REM sleep dissociation, most importantly cataplexy. Cataplexy is a sudden and uncontrollable loss of muscle tone arising during wakefulness that is typically triggered by a strong emotion, such as excitement or laughter. Although cataplexy is a pathognomonic symptom of type 1 narcolepsy, it may not manifest until years following onset of the sleepiness. In such cases, a diagnosis of narcolepsy, type 1 may be made based on cerebrospinal fluid (CSF)-hypocretin levels < 110 picograms per milliliter. Episodes of sleep paralysis and hypnagogic or hypnopompic hallucinations may also be present. The disorder is not attributable to a disease of the nervous system or other medical condition. Note: A definitive diagnosis requires daily periods of irrepressible need to sleep or daytime lapses into sleep plus either: a) cataplexy and multiple sleep latency test/polysomnography (MSLT/PSG) findings characteristic of narcolepsy; or b) demonstrated CSF hypocretin deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 7A20.0 |
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| English | Narcolepsy, Type 1 |
Type 1 narcolepsy is a disorder of excessive sleepiness due to a deficiency of hypothalamic hypocretin (orexin) signaling. In addition to daily periods of irrepressible need to sleep or daytime lapses into sleep, type 1 narcolepsy is characterised by symptoms of REM sleep dissociation, most importantly cataplexy. Cataplexy is a sudden and uncontrollable loss of muscle tone arising during wakefulness that is typically triggered by a strong emotion, such as excitement or laughter. Although cataplexy is a pathognomonic symptom of type 1 narcolepsy, it may not manifest until years following onset of the sleepiness. In such cases, a diagnosis of narcolepsy, type 1 may be made based on cerebrospinal fluid (CSF)-hypocretin levels < 110 picograms per milliliter. Episodes of sleep paralysis and hypnagogic or hypnopompic hallucinations may also be present. The disorder is not attributable to a disease of the nervous system or other medical condition. Note: A definitive diagnosis requires daily periods of irrepressible need to sleep or daytime lapses into sleep plus either: a) cataplexy and multiple sleep latency test/polysomnography (MSLT/PSG) findings characteristic of narcolepsy; or b) demonstrated CSF hypocretin deficiency. |
