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Adult-onset Steinert myotonic dystrophy

MedGen UID:
1843180
Concept ID:
C5680309
Disease or Syndrome
Synonyms: Adult-onset myotonic dystrophy type 1; Adult-onset Steinert disease; adult-onset Steinert myotonic dystrophy
 
Monarch Initiative: MONDO:0035649
Orphanet: ORPHA589830

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult-onset Steinert myotonic dystrophy

Professional guidelines

PubMed

Meola G
Acta Myol 2013 Dec;32(3):154-65. PMID: 24803843Free PMC Article
McNally EM, Sparano D
Heart 2011 Jul;97(13):1094-100. doi: 10.1136/hrt.2010.214197. PMID: 21642660Free PMC Article
Turner C, Hilton-Jones D
J Neurol Neurosurg Psychiatry 2010 Apr;81(4):358-67. Epub 2010 Feb 22 doi: 10.1136/jnnp.2008.158261. PMID: 20176601

Recent clinical studies

Etiology

Joosten IBT, Horlings CGC, Vosse BAH, Wagner A, Bovenkerk DSH, Evertz R, Vernooy K, van Engelen BGM, Faber CG
Muscle Nerve 2023 Feb;67(2):130-137. Epub 2022 Dec 22 doi: 10.1002/mus.27766. PMID: 36484161Free PMC Article
Narasimhaiah D, Uppin MS, Ranganath P
Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270. doi: 10.4103/ijpm.ijpm_1074_21. PMID: 35562158
Langbehn KE, van der Plas E, Moser DJ, Long JD, Gutmann L, Nopoulos PC
J Neurosci Res 2021 Jan;99(1):190-199. Epub 2020 Feb 13 doi: 10.1002/jnr.24595. PMID: 32056295Free PMC Article
Sansone VA
Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915. doi: 10.1212/CON.0000000000000414. PMID: 27922499
McNally EM, Sparano D
Heart 2011 Jul;97(13):1094-100. doi: 10.1136/hrt.2010.214197. PMID: 21642660Free PMC Article

Diagnosis

Narasimhaiah D, Uppin MS, Ranganath P
Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270. doi: 10.4103/ijpm.ijpm_1074_21. PMID: 35562158
Sansone VA, Proserpio P, Mauro L, Biostat AL, Frezza E, Lanza A, Rogliani P, Pezzuto G, Falcier E, Aggradi CF, Pirola A, Rao F, Roma E, Galluzzi C, Spanetta M, Cattaneo F, Rubino A, Agostoni EC, Amico F, Zanolini A, Izzi F, Greco G, Romigi A, Liguori C, Nobili L, Placidi F, Massa R
J Clin Sleep Med 2021 Dec 1;17(12):2383-2391. doi: 10.5664/jcsm.9438. PMID: 34170223Free PMC Article
Meola G
Acta Myol 2020 Dec;39(4):222-234. Epub 2020 Dec 1 doi: 10.36185/2532-1900-026. PMID: 33458578Free PMC Article
Angeard N, Huerta E, Jacquette A, Cohen D, Xavier J, Gargiulo M, Servais L, Eymard B, Héron D
Neuromuscul Disord 2018 Mar;28(3):216-221. Epub 2017 Dec 15 doi: 10.1016/j.nmd.2017.12.006. PMID: 29361396
Turner C, Hilton-Jones D
J Neurol Neurosurg Psychiatry 2010 Apr;81(4):358-67. Epub 2010 Feb 22 doi: 10.1136/jnnp.2008.158261. PMID: 20176601

Therapy

Koscik TR, van der Plas E, Long JD, Cross S, Gutmann L, Cumming SA, Monckton DG, Shields RK, Magnotta V, Nopoulos PC
Neuromuscul Disord 2023 Aug;33(8):660-669. Epub 2023 Jun 11 doi: 10.1016/j.nmd.2023.05.010. PMID: 37419717Free PMC Article
Russo V, Papa AA, Rago A, Ciardiello C, Martino AM, Stazi A, Golino P, Calò L, Nigro G
Europace 2022 Jul 21;24(7):1148-1155. doi: 10.1093/europace/euab282. PMID: 35861549
Sansone VA
Continuum (Minneap Minn) 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915. doi: 10.1212/CON.0000000000000414. PMID: 27922499
Dauvilliers YA, Laberge L
Sleep Med Rev 2012 Dec;16(6):539-45. Epub 2012 Mar 31 doi: 10.1016/j.smrv.2012.01.001. PMID: 22465566
McNally EM, Sparano D
Heart 2011 Jul;97(13):1094-100. doi: 10.1136/hrt.2010.214197. PMID: 21642660Free PMC Article

Prognosis

Joosten IBT, Horlings CGC, Vosse BAH, Wagner A, Bovenkerk DSH, Evertz R, Vernooy K, van Engelen BGM, Faber CG
Muscle Nerve 2023 Feb;67(2):130-137. Epub 2022 Dec 22 doi: 10.1002/mus.27766. PMID: 36484161Free PMC Article
Narasimhaiah D, Uppin MS, Ranganath P
Indian J Pathol Microbiol 2022 May;65(Supplement):S259-S270. doi: 10.4103/ijpm.ijpm_1074_21. PMID: 35562158
Langbehn KE, van der Plas E, Moser DJ, Long JD, Gutmann L, Nopoulos PC
J Neurosci Res 2021 Jan;99(1):190-199. Epub 2020 Feb 13 doi: 10.1002/jnr.24595. PMID: 32056295Free PMC Article
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S
Biomed Res Int 2013;2013:391821. Epub 2013 Mar 18 doi: 10.1155/2013/391821. PMID: 23586035Free PMC Article
Turner C, Hilton-Jones D
J Neurol Neurosurg Psychiatry 2010 Apr;81(4):358-67. Epub 2010 Feb 22 doi: 10.1136/jnnp.2008.158261. PMID: 20176601

Clinical prediction guides

Joosten IBT, Horlings CGC, Vosse BAH, Wagner A, Bovenkerk DSH, Evertz R, Vernooy K, van Engelen BGM, Faber CG
Muscle Nerve 2023 Feb;67(2):130-137. Epub 2022 Dec 22 doi: 10.1002/mus.27766. PMID: 36484161Free PMC Article
Sansone VA, Proserpio P, Mauro L, Biostat AL, Frezza E, Lanza A, Rogliani P, Pezzuto G, Falcier E, Aggradi CF, Pirola A, Rao F, Roma E, Galluzzi C, Spanetta M, Cattaneo F, Rubino A, Agostoni EC, Amico F, Zanolini A, Izzi F, Greco G, Romigi A, Liguori C, Nobili L, Placidi F, Massa R
J Clin Sleep Med 2021 Dec 1;17(12):2383-2391. doi: 10.5664/jcsm.9438. PMID: 34170223Free PMC Article
Voermans NC, van der Bilt RC, IJspeert J, Hogrel JY, Jeanpierre M, Behin A, Laforet P, Stojkovic T, van Engelen BG, Padberg GW, Sacconi S, Lemmers RJLF, van der Maarel SM, Eymard B, Bassez G
J Neurol 2019 Dec;266(12):2987-2996. Epub 2019 Aug 31 doi: 10.1007/s00415-019-09494-8. PMID: 31471688Free PMC Article
Lanni S, Pearson CE
Neurobiol Dis 2019 Dec;132:104533. Epub 2019 Jul 19 doi: 10.1016/j.nbd.2019.104533. PMID: 31326502
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S
Biomed Res Int 2013;2013:391821. Epub 2013 Mar 18 doi: 10.1155/2013/391821. PMID: 23586035Free PMC Article

Recent systematic reviews

Landfeldt E, Edström J, Jimenez-Moreno C, van Engelen BGM, Kirschner J, Lochmüller H
Patient 2019 Aug;12(4):365-373. doi: 10.1007/s40271-019-00357-y. PMID: 30714084Free PMC Article

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