U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Restless legs syndrome, susceptibility to, 1(RLS1)

MedGen UID:
360293
Concept ID:
C1876177
Finding
Synonyms: Acromelalgia hereditary; Ekbom syndrome; Restless legs syndrome 1; RLS1
 
Monarch Initiative: MONDO:0007053
OMIM®: 102300

Definition

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. [from OMIM]

Clinical features

From HPO
Myoclonus
MedGen UID:
10234
Concept ID:
C0027066
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Restless legs
MedGen UID:
48427
Concept ID:
C0035258
Disease or Syndrome
Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Sign or Symptom
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Insomnia
MedGen UID:
214589
Concept ID:
C0917801
Sign or Symptom
Persistent difficulty initiating or maintaining sleep.
Exercise-induced leg cramps
MedGen UID:
870174
Concept ID:
C4024607
Sign or Symptom
Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.

Professional guidelines

PubMed

Jiménez-Jiménez FJ, Alonso-Navarro H, Martínez C, Zurdo M, Turpín-Fenoll L, Millán-Pascual J, Adeva-Bartolomé T, Cubo E, Navacerrada F, Rojo-Sebastián A, Rubio L, Calleja M, Plaza-Nieto JF, Pilo-de-la-Fuente B, Arroyo-Solera M, García-Martín E, Agúndez JA
Sleep Med 2014 Feb;15(2):266-8. Epub 2013 Dec 22 doi: 10.1016/j.sleep.2013.08.800. PMID: 24424098
Picchietti MA, Picchietti DL
Sleep Med 2010 Aug;11(7):643-51. doi: 10.1016/j.sleep.2009.11.014. PMID: 20620105

Recent clinical studies

Etiology

Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J
Nat Genet 2024 Jun;56(6):1090-1099. Epub 2024 Jun 5 doi: 10.1038/s41588-024-01763-1. PMID: 38839884
Elrassas HH, Elsayed YAR, Abdeen MS, Shady MM, Shalash A, Morsy M
Hum Psychopharmacol 2022 Mar;37(2):e2817. Epub 2021 Sep 17 doi: 10.1002/hup.2817. PMID: 34533852
Seeman MV
Int J Environ Res Public Health 2020 Jan 6;17(1) doi: 10.3390/ijerph17010368. PMID: 31935805Free PMC Article
Ondo WG
Neurol Clin 2009 Aug;27(3):779-99, vii. doi: 10.1016/j.ncl.2009.04.007. PMID: 19555831
Winkelmann J
Curr Neurol Neurosci Rep 2008 May;8(3):211-6. doi: 10.1007/s11910-008-0033-y. PMID: 18541116

Diagnosis

Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J
Nat Genet 2024 Jun;56(6):1090-1099. Epub 2024 Jun 5 doi: 10.1038/s41588-024-01763-1. PMID: 38839884
Lane JM, Jones SE, Dashti HS, Wood AR, Aragam KG, van Hees VT, Strand LB, Winsvold BS, Wang H, Bowden J, Song Y, Patel K, Anderson SG, Beaumont RN, Bechtold DA, Cade BE, Haas M, Kathiresan S, Little MA, Luik AI, Loudon AS, Purcell S, Richmond RC, Scheer FAJL, Schormair B, Tyrrell J, Winkelman JW, Winkelmann J; HUNT All In Sleep, Hveem K, Zhao C, Nielsen JB, Willer CJ, Redline S, Spiegelhalder K, Kyle SD, Ray DW, Zwart JA, Brumpton B, Frayling TM, Lawlor DA, Rutter MK, Weedon MN, Saxena R
Nat Genet 2019 Mar;51(3):387-393. Epub 2019 Feb 25 doi: 10.1038/s41588-019-0361-7. PMID: 30804566Free PMC Article
Picchietti MA, Picchietti DL
Sleep Med 2010 Aug;11(7):643-51. doi: 10.1016/j.sleep.2009.11.014. PMID: 20620105
Ondo WG
Neurol Clin 2009 Aug;27(3):779-99, vii. doi: 10.1016/j.ncl.2009.04.007. PMID: 19555831
Durmer JS, Dinges DF
Semin Neurol 2005 Mar;25(1):117-29. doi: 10.1055/s-2005-867080. PMID: 15798944

Therapy

Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J
Nat Genet 2024 Jun;56(6):1090-1099. Epub 2024 Jun 5 doi: 10.1038/s41588-024-01763-1. PMID: 38839884
Elrassas HH, Elsayed YAR, Abdeen MS, Shady MM, Shalash A, Morsy M
Hum Psychopharmacol 2022 Mar;37(2):e2817. Epub 2021 Sep 17 doi: 10.1002/hup.2817. PMID: 34533852
Mao S, Shen H, Huang S, Zhang A
Sleep Med 2014 Dec;15(12):1532-8. Epub 2014 Oct 2 doi: 10.1016/j.sleep.2014.07.017. PMID: 25450056
Picchietti MA, Picchietti DL
Sleep Med 2010 Aug;11(7):643-51. doi: 10.1016/j.sleep.2009.11.014. PMID: 20620105
Ondo WG
Neurol Clin 2009 Aug;27(3):779-99, vii. doi: 10.1016/j.ncl.2009.04.007. PMID: 19555831

Prognosis

Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J
Nat Genet 2024 Jun;56(6):1090-1099. Epub 2024 Jun 5 doi: 10.1038/s41588-024-01763-1. PMID: 38839884
Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P
Parkinsonism Relat Disord 2019 Jul;64:262-267. Epub 2019 May 4 doi: 10.1016/j.parkreldis.2019.05.002. PMID: 31085086Free PMC Article
Fuh JL, Chung MY, Yao SC, Chen PK, Liao YC, Hsu CL, Wang PJ, Wang YF, Chen SP, Fann CS, Kao LS, Wang SJ
Cephalalgia 2016 Oct;36(11):1028-1037. Epub 2016 Jul 19 doi: 10.1177/0333102415620907. PMID: 26643377
Manconi M, Govoni V, De Vito A, Economou NT, Cesnik E, Casetta I, Mollica G, Ferini-Strambi L, Granieri E
Neurology 2004 Sep 28;63(6):1065-9. doi: 10.1212/01.wnl.0000138427.83574.a6. PMID: 15452299
Högl B, Frauscher B, Seppi K, Ulmer H, Poewe W
Neurology 2002 Dec 10;59(11):1705-7. doi: 10.1212/01.wnl.0000036606.56405.3d. PMID: 12473756

Clinical prediction guides

Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Högl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sørensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P; 23andMe Research Team; D.E.S.I.R. study group, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J
Nat Genet 2024 Jun;56(6):1090-1099. Epub 2024 Jun 5 doi: 10.1038/s41588-024-01763-1. PMID: 38839884
Jiang YJ, Fann CS, Fuh JL, Chung MY, Huang HY, Chu KC, Wang YF, Hsu CL, Kao LS, Chen SP, Wang SJ
J Headache Pain 2022 Mar 29;23(1):39. doi: 10.1186/s10194-022-01409-9. PMID: 35350973Free PMC Article
Diez-Fairen M, Bandres-Ciga S, Houle G, Nalls MA, Girard SL, Dion PA, Blauwendraat C, Singleton AB, Rouleau GA, Pastor P
Parkinsonism Relat Disord 2019 Jul;64:262-267. Epub 2019 May 4 doi: 10.1016/j.parkreldis.2019.05.002. PMID: 31085086Free PMC Article
Fuh JL, Chung MY, Yao SC, Chen PK, Liao YC, Hsu CL, Wang PJ, Wang YF, Chen SP, Fann CS, Kao LS, Wang SJ
Cephalalgia 2016 Oct;36(11):1028-1037. Epub 2016 Jul 19 doi: 10.1177/0333102415620907. PMID: 26643377
Mao S, Shen H, Huang S, Zhang A
Sleep Med 2014 Dec;15(12):1532-8. Epub 2014 Oct 2 doi: 10.1016/j.sleep.2014.07.017. PMID: 25450056

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...