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Narcolepsy 3(NRCLP3)

MedGen UID:
332320
Concept ID:
C1836907
Disease or Syndrome
Synonym: NRCLP3
 
Monarch Initiative: MONDO:0012179
OMIM®: 609039

Definition

Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.

Narcolepsy is characterized by excessive daytime sleepiness. Affected individuals feel tired during the day, and several times a day they may experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual times, such as during a meal or in the middle of a conversation. They last from a few seconds to a few minutes and often lead to a longer nap, after which affected individuals wake up feeling refreshed.

Another common feature of narcolepsy is cataplexy, which is a sudden loss of muscle tone in response to strong emotion (such as laughing, surprise, or anger). These episodes of muscle weakness can cause an affected person to slump over or fall, which occasionally leads to injury. Episodes of cataplexy usually last just a few seconds, and they may occur from several times a day to a few times a year. Most people diagnosed with narcolepsy also have cataplexy. However, some do not, which has led researchers to distinguish two major forms of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy.

Some people with narcolepsy have all of the major features of the disorder, while others have only one or two. Most of the signs and symptoms persist throughout life, although episodes of cataplexy may become less frequent with age and treatment.

Narcolepsy also affects nighttime sleep. Most affected individuals have trouble sleeping for more than a few hours at night. They often experience vivid hallucinations while falling asleep (hypnogogic hallucinations) or while waking up (hypnopompic hallucinations). Affected individuals often have realistic and distressing dreams, and they may act out their dreams by moving excessively or talking in their sleep. Many people with narcolepsy also experience sleep paralysis, which is an inability to move or speak for a short period while falling asleep or awakening. The combination of hallucinations, vivid dreams, and sleep paralysis is often frightening and unpleasant for affected individuals. [from MedlinePlus Genetics]

Clinical features

From HPO
Cataplexy
MedGen UID:
2862
Concept ID:
C0007384
Disease or Syndrome
A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
Narcolepsy
MedGen UID:
45001
Concept ID:
C0027404
Disease or Syndrome
An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis.
Hypnagogic hallucination
MedGen UID:
68578
Concept ID:
C0233773
Sign or Symptom
Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.
Abnormal rapid eye movement sleep
MedGen UID:
488885
Concept ID:
C0392188
Finding
Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.
Paroxysmal drowsiness
MedGen UID:
871232
Concept ID:
C4025713
Disease or Syndrome
A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep
Excessive daytime somnolence
MedGen UID:
1635612
Concept ID:
C4551761
Sign or Symptom
A state of abnormally strong desire for sleep during the daytime.

Professional guidelines

PubMed

Howell M, Avidan AY, Foldvary-Schaefer N, Malkani RG, During EH, Roland JP, McCarter SJ, Zak RS, Carandang G, Kazmi U, Ramar K
J Clin Sleep Med 2023 Apr 1;19(4):759-768. doi: 10.5664/jcsm.10424. PMID: 36515157Free PMC Article
Roessner V, Eichele H, Stern JS, Skov L, Rizzo R, Debes NM, Nagy P, Cavanna AE, Termine C, Ganos C, Münchau A, Szejko N, Cath D, Müller-Vahl KR, Verdellen C, Hartmann A, Rothenberger A, Hoekstra PJ, Plessen KJ
Eur Child Adolesc Psychiatry 2022 Mar;31(3):425-441. Epub 2021 Nov 10 doi: 10.1007/s00787-021-01899-z. PMID: 34757514Free PMC Article
Nepovimova E, Janockova J, Misik J, Kubik S, Stuchlik A, Vales K, Korabecny J, Mezeiova E, Dolezal R, Soukup O, Kobrlova T, Pham NL, Nguyen TD, Konecny J, Kuca K
Med Res Rev 2019 May;39(3):961-975. Epub 2018 Nov 14 doi: 10.1002/med.21550. PMID: 30426515

Recent clinical studies

Etiology

Dauvilliers Y, Mignot E, Del Río Villegas R, Du Y, Hanson E, Inoue Y, Kadali H, Koundourakis E, Meyer S, Rogers R, Scammell TE, Sheikh SI, Swick T, Szakács Z, von Rosenstiel P, Wu J, Zeitz H, Murthy NV, Plazzi G, von Hehn C
N Engl J Med 2023 Jul 27;389(4):309-321. doi: 10.1056/NEJMoa2301940. PMID: 37494485
Dauvilliers Y, Lecendreux M, Lammers GJ, Franco P, Poluektov M, Caussé C, Lecomte I, Lecomte JM, Lehert P, Schwartz JC, Plazzi G
Lancet Neurol 2023 Apr;22(4):303-311. doi: 10.1016/S1474-4422(23)00036-4. PMID: 36931805
Itani R, Gillett ES, Perez IA
Curr Neurol Neurosci Rep 2023 Mar;23(3):25-32. Epub 2023 Feb 15 doi: 10.1007/s11910-023-01254-6. PMID: 36790642Free PMC Article
Hanin C, Arnulf I, Maranci JB, Lecendreux M, Levinson DF, Cohen D, Laurent-Levinson C
Acta Psychiatr Scand 2021 Jul;144(1):28-41. Epub 2021 May 5 doi: 10.1111/acps.13300. PMID: 33779983Free PMC Article
Kornum BR, Knudsen S, Ollila HM, Pizza F, Jennum PJ, Dauvilliers Y, Overeem S
Nat Rev Dis Primers 2017 Feb 9;3:16100. doi: 10.1038/nrdp.2016.100. PMID: 28179647

Diagnosis

Barateau L, Pizza F, Chenini S, Peter-Derex L, Dauvilliers Y
Rev Neurol (Paris) 2023 Oct;179(7):727-740. Epub 2023 Aug 25 doi: 10.1016/j.neurol.2023.08.001. PMID: 37634997
Hanin C, Arnulf I, Maranci JB, Lecendreux M, Levinson DF, Cohen D, Laurent-Levinson C
Acta Psychiatr Scand 2021 Jul;144(1):28-41. Epub 2021 May 5 doi: 10.1111/acps.13300. PMID: 33779983Free PMC Article
K Pavlova M, Latreille V
Am J Med 2019 Mar;132(3):292-299. Epub 2018 Oct 4 doi: 10.1016/j.amjmed.2018.09.021. PMID: 30292731
Zhang J, Han F
Sleep Med Clin 2017 Sep;12(3):323-330. Epub 2017 May 13 doi: 10.1016/j.jsmc.2017.03.008. PMID: 28778231
Kornum BR, Knudsen S, Ollila HM, Pizza F, Jennum PJ, Dauvilliers Y, Overeem S
Nat Rev Dis Primers 2017 Feb 9;3:16100. doi: 10.1038/nrdp.2016.100. PMID: 28179647

Therapy

Felmlee MA, Morse BL, Morris ME
AAPS J 2021 Jan 8;23(1):22. doi: 10.1208/s12248-020-00543-z. PMID: 33417072Free PMC Article
Thorpy MJ
CNS Drugs 2020 Jan;34(1):9-27. doi: 10.1007/s40263-019-00689-1. PMID: 31953791Free PMC Article
Nepovimova E, Janockova J, Misik J, Kubik S, Stuchlik A, Vales K, Korabecny J, Mezeiova E, Dolezal R, Soukup O, Kobrlova T, Pham NL, Nguyen TD, Konecny J, Kuca K
Med Res Rev 2019 May;39(3):961-975. Epub 2018 Nov 14 doi: 10.1002/med.21550. PMID: 30426515
K Pavlova M, Latreille V
Am J Med 2019 Mar;132(3):292-299. Epub 2018 Oct 4 doi: 10.1016/j.amjmed.2018.09.021. PMID: 30292731
Kornum BR, Knudsen S, Ollila HM, Pizza F, Jennum PJ, Dauvilliers Y, Overeem S
Nat Rev Dis Primers 2017 Feb 9;3:16100. doi: 10.1038/nrdp.2016.100. PMID: 28179647

Prognosis

Barateau L, Pizza F, Chenini S, Peter-Derex L, Dauvilliers Y
Rev Neurol (Paris) 2023 Oct;179(7):727-740. Epub 2023 Aug 25 doi: 10.1016/j.neurol.2023.08.001. PMID: 37634997
Abad VC
Expert Rev Neurother 2023 Jul-Dec;23(9):819-834. Epub 2023 Aug 29 doi: 10.1080/14737175.2023.2249234. PMID: 37585269
Elliott JE, Lim MM, Keil AT, Postuma RB, Pelletier A, Gagnon JF, St Louis EK, Forsberg LK, Fields JA, Huddleston DE, Bliwise DL, Avidan AY, Howell MJ, Schenck CH, McLeland J, Criswell SR, Videnovic A, During EH, Miglis MG, Shprecher DR, Lee-Iannotti JK, Boeve BF, Ju YS; North American Prodromal Synucleinopathy (NAPS) Consortium
Ann Clin Transl Neurol 2023 Apr;10(4):520-535. Epub 2023 Feb 8 doi: 10.1002/acn3.51738. PMID: 36751940Free PMC Article
Howell M, Avidan AY, Foldvary-Schaefer N, Malkani RG, During EH, Roland JP, McCarter SJ, Zak RS, Carandang G, Kazmi U, Ramar K
J Clin Sleep Med 2023 Apr 1;19(4):759-768. doi: 10.5664/jcsm.10424. PMID: 36515157Free PMC Article
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article

Clinical prediction guides

Dauvilliers Y, Mignot E, Del Río Villegas R, Du Y, Hanson E, Inoue Y, Kadali H, Koundourakis E, Meyer S, Rogers R, Scammell TE, Sheikh SI, Swick T, Szakács Z, von Rosenstiel P, Wu J, Zeitz H, Murthy NV, Plazzi G, von Hehn C
N Engl J Med 2023 Jul 27;389(4):309-321. doi: 10.1056/NEJMoa2301940. PMID: 37494485
Dauvilliers Y, Lecendreux M, Lammers GJ, Franco P, Poluektov M, Caussé C, Lecomte I, Lecomte JM, Lehert P, Schwartz JC, Plazzi G
Lancet Neurol 2023 Apr;22(4):303-311. doi: 10.1016/S1474-4422(23)00036-4. PMID: 36931805
Fietze I, Bassetti CLA, Mayleben DW, Pain S, Seboek Kinter D, McCall WV
Drugs Aging 2022 Oct;39(10):795-810. Epub 2022 Sep 13 doi: 10.1007/s40266-022-00977-4. PMID: 36098936Free PMC Article
Hanin C, Arnulf I, Maranci JB, Lecendreux M, Levinson DF, Cohen D, Laurent-Levinson C
Acta Psychiatr Scand 2021 Jul;144(1):28-41. Epub 2021 May 5 doi: 10.1111/acps.13300. PMID: 33779983Free PMC Article
Thorpy MJ, Shapiro C, Mayer G, Corser BC, Emsellem H, Plazzi G, Chen D, Carter LP, Wang H, Lu Y, Black J, Dauvilliers Y
Ann Neurol 2019 Mar;85(3):359-370. doi: 10.1002/ana.25423. PMID: 30694576Free PMC Article

Recent systematic reviews

Hsu CW, Tseng PT, Tu YK, Lin PY, Wang LJ, Hung CF, Yang YH, Kao HY, Yeh CB, Lai HC, Chen TY
J Clin Sleep Med 2022 Apr 1;18(4):1113-1120. doi: 10.5664/jcsm.9816. PMID: 34893148Free PMC Article
Maski K, Trotti LM, Kotagal S, Robert Auger R, Rowley JA, Hashmi SD, Watson NF
J Clin Sleep Med 2021 Sep 1;17(9):1881-1893. doi: 10.5664/jcsm.9328. PMID: 34743789Free PMC Article
Hanin C, Arnulf I, Maranci JB, Lecendreux M, Levinson DF, Cohen D, Laurent-Levinson C
Acta Psychiatr Scand 2021 Jul;144(1):28-41. Epub 2021 May 5 doi: 10.1111/acps.13300. PMID: 33779983Free PMC Article
Mohammadi S, Mayeli M, Saghazadeh A, Rezaei N
Cytokine 2020 Jul;131:155103. Epub 2020 Apr 18 doi: 10.1016/j.cyto.2020.155103. PMID: 32315956
Alshaikh MK, Tricco AC, Tashkandi M, Mamdani M, Straus SE, BaHammam AS
J Clin Sleep Med 2012 Aug 15;8(4):451-8. doi: 10.5664/jcsm.2048. PMID: 22893778Free PMC Article

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