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Insomnia

MedGen UID:
214589
Concept ID:
C0917801
Sign or Symptom
Synonyms: Insomnia Disorder; Insomnia Disorders; Insomnias; Sleeplessness
SNOMED CT: Sleeplessness (193462001); Insomnia (193462001)
 
HPO: HP:0100785
Monarch Initiative: MONDO:0013600

Definition

Persistent difficulty initiating or maintaining sleep. [from HPO]

Conditions with this feature

Wilson disease
MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body.
Hereditary coproporphyria
MedGen UID:
57931
Concept ID:
C0162531
Disease or Syndrome
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.
Fatal familial insomnia
MedGen UID:
104768
Concept ID:
C0206042
Disease or Syndrome
Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.
Progeroid short stature with pigmented nevi
MedGen UID:
224702
Concept ID:
C1261128
Disease or Syndrome
Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a sleep disorder with severe insomnia, and cognitive decline (summary by Yagihashi et al., 2009).
Perry syndrome
MedGen UID:
357007
Concept ID:
C1868594
Disease or Syndrome
The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy. Some individuals present with overlapping phenotypes (e.g., FTD-ALS, Perry syndrome-dHMN7B). Perry syndrome (the most common of the phenotypes associated with DCTN1) is characterized by parkinsonism, neuropsychiatric symptoms, hypoventilation, and weight loss. The mean age of onset in those with Perry syndrome is 49 years (range: 35-70 years), and the mean disease duration is five years (range: 2-14 years). In most affected persons, the reported cause/circumstance of death relates to sudden death/hypoventilation or suicide.
Restless legs syndrome, susceptibility to, 1
MedGen UID:
360293
Concept ID:
C1876177
Finding
Restless legs syndrome (RLS) is a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs. The disorder results in nocturnal insomnia and chronic sleep deprivation (Bonati et al., 2003). Genetic Heterogeneity of Restless Legs Syndrome RLS1 has been mapped to chromosome 12q. Other susceptibility loci for RLS include RLS2 (608831) on chromosome 14q13-q31; RLS3 (610438) on chromosome 9p24-p22; RLS4 (610439) on chromosome 2q33; RLS5 (611242) on chromosome 20p13; RLS6 (611185) on chromosome 6p21; RLS7 (612853) on chromosome 2p14; and RLS8 (615197) on chromosome 5q31.
Myoclonus, familial, 1
MedGen UID:
761667
Concept ID:
C3539916
Disease or Syndrome
Familial myoclonus-1 is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss of consciousness (summary by Russell et al., 2012). Genetic Heterogeneity of Familial Myoclonus Also see MYOCL2 (618364), caused by mutation in the SCN8A gene (600702) on chromosome 12q13.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Spinocerebellar ataxia 48
MedGen UID:
1648409
Concept ID:
C4748158
Disease or Syndrome
Spinocerebellar ataxia-48 (SCA48) is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as cognitive decline, deficits in executive function, and psychiatric or affective manifestations, such as depression, anxiety, and apathy. Additional more variable features may include movement abnormalities, such as parkinsonism, tremor, chorea, dystonia, and dysmetria; spasticity is not observed. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis, often with bilateral T2-weighted hyperintensities in the dentate nuclei (the 'crab sign'), and diffusion tensor imaging (DTI) may show paucity of cerebellar connections to the brainstem and cerebrum. The presentation is consistent with a clinical diagnosis of cerebellar cognitive-affective syndrome (CCAS). The phenotype shows both inter- and intrafamilial variability as well as some clinical overlap with SCAR16, suggesting that mutations in the STUB1 gene result in a spectrum of neurodegenerative manifestations (summary by Genis et al., 2018; Cocozza et al., 2020; Palvadeau et al., 2020; Ravel et al., 2021). Magri et al. (2022) found evidence that heterozygous STUB1 variants alone do not cause disease but require a concurrent expanded repeat allele of the TBP gene (600075) for disease manifestation; see MOLECULAR GENETICS.
Congenital disorder of glycosylation, type iit
MedGen UID:
1709627
Concept ID:
C5394387
Disease or Syndrome
Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
MedGen UID:
1727046
Concept ID:
C5436894
Disease or Syndrome
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS) is an autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay. In addition, most patients develop a paroxysmal hyperkinetic movement disorder in the first months or years of life manifest as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. The episodes are pharmacoresistant to anticonvulsant medication. EEG may show interictal abnormalities, but are usually not consistent with epilepsy. However, some patients may also develop epileptic seizures or only have seizures without a movement disorder (summary by Doummar et al., 2020).
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
MedGen UID:
1848439
Concept ID:
C5882675
Disease or Syndrome
Congenital cranial dysinnervation disorder with absent corneal reflex and developmental delay (CCDDRD) is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present. Additional features may include expressionless face, feeding or chewing difficulties due to oromotor dysfunction, and dysmorphic facial features (Dupont et al., 2021; Sheth et al., 2023).

Professional guidelines

PubMed

Riemann D, Espie CA, Altena E, Arnardottir ES, Baglioni C, Bassetti CLA, Bastien C, Berzina N, Bjorvatn B, Dikeos D, Dolenc Groselj L, Ellis JG, Garcia-Borreguero D, Geoffroy PA, Gjerstad M, Gonçalves M, Hertenstein E, Hoedlmoser K, Hion T, Holzinger B, Janku K, Jansson-Fröjmark M, Järnefelt H, Jernelöv S, Jennum PJ, Khachatryan S, Krone L, Kyle SD, Lancee J, Leger D, Lupusor A, Marques DR, Nissen C, Palagini L, Paunio T, Perogamvros L, Pevernagie D, Schabus M, Shochat T, Szentkiralyi A, Van Someren E, van Straten A, Wichniak A, Verbraecken J, Spiegelhalder K
J Sleep Res 2023 Dec;32(6):e14035. doi: 10.1111/jsr.14035. PMID: 38016484
Shaha DP
J Fam Pract 2023 Jul;72(6 Suppl):S31-S36. doi: 10.12788/jfp.0620. PMID: 37549414
Riemann D, Baglioni C, Bassetti C, Bjorvatn B, Dolenc Groselj L, Ellis JG, Espie CA, Garcia-Borreguero D, Gjerstad M, Gonçalves M, Hertenstein E, Jansson-Fröjmark M, Jennum PJ, Leger D, Nissen C, Parrino L, Paunio T, Pevernagie D, Verbraecken J, Weeß HG, Wichniak A, Zavalko I, Arnardottir ES, Deleanu OC, Strazisar B, Zoetmulder M, Spiegelhalder K
J Sleep Res 2017 Dec;26(6):675-700. Epub 2017 Sep 5 doi: 10.1111/jsr.12594. PMID: 28875581

Recent clinical studies

Etiology

Shaha DP
J Fam Pract 2023 Jul;72(6 Suppl):S31-S36. doi: 10.12788/jfp.0620. PMID: 37549414
Morin CM, Jarrin DC
Sleep Med Clin 2022 Jun;17(2):173-191. Epub 2022 Apr 23 doi: 10.1016/j.jsmc.2022.03.003. PMID: 35659072
Palagini L, Hertenstein E, Riemann D, Nissen C
J Sleep Res 2022 Aug;31(4):e13628. Epub 2022 May 4 doi: 10.1111/jsr.13628. PMID: 35506356
Sutton EL
Ann Intern Med 2021 Mar;174(3):ITC33-ITC48. Epub 2021 Mar 9 doi: 10.7326/AITC202103160. PMID: 33683929
Patel D, Steinberg J, Patel P
J Clin Sleep Med 2018 Jun 15;14(6):1017-1024. doi: 10.5664/jcsm.7172. PMID: 29852897Free PMC Article

Diagnosis

Shaha DP
J Fam Pract 2023 Jul;72(6 Suppl):S31-S36. doi: 10.12788/jfp.0620. PMID: 37549414
Brewster GS, Riegel B, Gehrman PR
Sleep Med Clin 2022 Jun;17(2):233-239. doi: 10.1016/j.jsmc.2022.03.004. PMID: 35659076
Sutton EL
Ann Intern Med 2021 Mar;174(3):ITC33-ITC48. Epub 2021 Mar 9 doi: 10.7326/AITC202103160. PMID: 33683929
Van Someren EJW
Physiol Rev 2021 Jul 1;101(3):995-1046. Epub 2020 Aug 13 doi: 10.1152/physrev.00046.2019. PMID: 32790576
Patel D, Steinberg J, Patel P
J Clin Sleep Med 2018 Jun 15;14(6):1017-1024. doi: 10.5664/jcsm.7172. PMID: 29852897Free PMC Article

Therapy

Scott AJ, Webb TL, Martyn-St James M, Rowse G, Weich S
Sleep Med Rev 2021 Dec;60:101556. Epub 2021 Sep 23 doi: 10.1016/j.smrv.2021.101556. PMID: 34607184Free PMC Article
Freeman D, Sheaves B, Waite F, Harvey AG, Harrison PJ
Lancet Psychiatry 2020 Jul;7(7):628-637. doi: 10.1016/S2215-0366(20)30136-X. PMID: 32563308
Tang D, Li H, Chen L
Adv Exp Med Biol 2019;1130:109-128. doi: 10.1007/978-981-13-6123-4_7. PMID: 30915704
Schroeck JL, Ford J, Conway EL, Kurtzhalts KE, Gee ME, Vollmer KA, Mergenhagen KA
Clin Ther 2016 Nov;38(11):2340-2372. Epub 2016 Oct 15 doi: 10.1016/j.clinthera.2016.09.010. PMID: 27751669
Cheuk DK, Yeung WF, Chung KF, Wong V
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD005472. doi: 10.1002/14651858.CD005472.pub3. PMID: 22972087Free PMC Article

Prognosis

Shao L, Shi Y, Xie XY, Wang Z, Wang ZA, Zhang JE
J Am Med Dir Assoc 2023 Nov;24(11):1708-1717. Epub 2023 Jul 8 doi: 10.1016/j.jamda.2023.06.002. PMID: 37433427
Fan M, Sun D, Zhou T, Heianza Y, Lv J, Li L, Qi L
Eur Heart J 2020 Mar 14;41(11):1182-1189. doi: 10.1093/eurheartj/ehz849. PMID: 31848595Free PMC Article
Pengo MF, Won CH, Bourjeily G
Chest 2018 Jul;154(1):196-206. Epub 2018 Apr 19 doi: 10.1016/j.chest.2018.04.005. PMID: 29679598Free PMC Article
Carter KA, Hathaway NE, Lettieri CF
Am Fam Physician 2014 Mar 1;89(5):368-77. PMID: 24695508
O'Keefe JH, Bhatti SK, Patil HR, DiNicolantonio JJ, Lucan SC, Lavie CJ
J Am Coll Cardiol 2013 Sep 17;62(12):1043-1051. Epub 2013 Jul 17 doi: 10.1016/j.jacc.2013.06.035. PMID: 23871889

Clinical prediction guides

He D, Meng P, Li C, Jia Y, Wen Y, Pan C, Zhang Z, Zhang J, Zhang H, Chen Y, Zhao Y, Qin X, Cai Q, Wei W, Shi S, Chu X, Zhang N, Zhang F
Sleep Med 2022 Dec;100:304-310. Epub 2022 Sep 14 doi: 10.1016/j.sleep.2022.09.002. PMID: 36182724
Hao S, Tan S, Li J, Li W, Li J, Liu Y, Hong Z
Asia Pac J Clin Nutr 2022;31(3):362-370. doi: 10.6133/apjcn.202209_31(3).0004. PMID: 36173208
Yin X, Li W, Liang T, Lu B, Yue H, Li S, Zhong VW, Zhang W, Li X, Zhou S, Mi Y, Wu H, Xu S
JAMA Netw Open 2022 Jul 1;5(7):e2220563. doi: 10.1001/jamanetworkopen.2022.20563. PMID: 35797047Free PMC Article
Sumsuzzman DM, Choi J, Jin Y, Hong Y
Neurosci Biobehav Rev 2021 Aug;127:459-473. Epub 2021 May 3 doi: 10.1016/j.neubiorev.2021.04.034. PMID: 33957167
Morin CM, Belleville G, Bélanger L, Ivers H
Sleep 2011 May 1;34(5):601-8. doi: 10.1093/sleep/34.5.601. PMID: 21532953Free PMC Article

Recent systematic reviews

Choi K, Lee YJ, Park S, Je NK, Suh HS
Sleep Med Rev 2022 Dec;66:101692. Epub 2022 Sep 13 doi: 10.1016/j.smrv.2022.101692. PMID: 36179487
Zhang J, Zhang Z, Huang S, Qiu X, Lao L, Huang Y, Zhang ZJ
Phytomedicine 2022 Jul 20;102:154160. Epub 2022 May 14 doi: 10.1016/j.phymed.2022.154160. PMID: 35636168
Hertenstein E, Trinca E, Wunderlin M, Schneider CL, Züst MA, Fehér KD, Su T, Straten AV, Berger T, Baglioni C, Johann A, Spiegelhalder K, Riemann D, Feige B, Nissen C
Sleep Med Rev 2022 Apr;62:101597. Epub 2022 Feb 9 doi: 10.1016/j.smrv.2022.101597. PMID: 35240417
Gardani M, Bradford DRR, Russell K, Allan S, Beattie L, Ellis JG, Akram U
Sleep Med Rev 2022 Feb;61:101565. Epub 2021 Nov 2 doi: 10.1016/j.smrv.2021.101565. PMID: 34922108
Buysse DJ
JAMA 2013 Feb 20;309(7):706-16. doi: 10.1001/jama.2013.193. PMID: 23423416Free PMC Article

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