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Late-onset Steinert myotonic dystrophy

MedGen UID:
1842603
Concept ID:
C5680308
Disease or Syndrome
Synonyms: Late-onset myotonic dystrophy type 1; Late-onset Steinert disease; late-onset Steinert myotonic dystrophy
 
Monarch Initiative: MONDO:0035650
Orphanet: ORPHA589833

Term Hierarchy

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

Professional guidelines

PubMed

Hofmeister F, Baber L, Ferrari U, Hintze S, Jarmusch S, Krause S, Meinke P, Mehaffey S, Neuerburg C, Tangenelli F, Schoser B, Drey M
BMC Neurol 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y. PMID: 34172001Free PMC Article
Meola G
Acta Myol 2013 Dec;32(3):154-65. PMID: 24803843Free PMC Article
Tanaka K, Sekijima Y, Yoshida K, Tamai M, Kosho T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
J Hum Genet 2013 Aug;58(8):560-3. Epub 2013 May 2 doi: 10.1038/jhg.2013.34. PMID: 23635952

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
Labayru G, Camino B, Jimenez-Marin A, Garmendia J, Villanua J, Zulaica M, Cortes JM, López de Munain A, Sistiaga A
Sci Rep 2022 Mar 7;12(1):3988. doi: 10.1038/s41598-022-07820-1. PMID: 35256728Free PMC Article
Labayru G, Jimenez-Marin A, Fernández E, Villanua J, Zulaica M, Cortes JM, Díez I, Sepulcre J, López de Munain A, Sistiaga A
Ann Clin Transl Neurol 2020 Oct;7(10):1802-1815. Epub 2020 Sep 2 doi: 10.1002/acn3.51163. PMID: 32881379Free PMC Article
De Antonio M, Dogan C, Hamroun D, Mati M, Zerrouki S, Eymard B, Katsahian S, Bassez G; French Myotonic Dystrophy Clinical Network
Rev Neurol (Paris) 2016 Oct;172(10):572-580. Epub 2016 Sep 21 doi: 10.1016/j.neurol.2016.08.003. PMID: 27665240
Petitclerc É, Hébert LJ, Desrosiers J, Gagnon C
Muscle Nerve 2015 Apr;51(4):473-8. Epub 2015 Feb 25 doi: 10.1002/mus.24521. PMID: 25399769

Diagnosis

Salort-Campana E, Attarian S
Curr Opin Neurol 2024 Oct 1;37(5):523-535. Epub 2024 Jul 16 doi: 10.1097/WCO.0000000000001298. PMID: 39017649
Hofmeister F, Baber L, Ferrari U, Hintze S, Jarmusch S, Krause S, Meinke P, Mehaffey S, Neuerburg C, Tangenelli F, Schoser B, Drey M
BMC Neurol 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y. PMID: 34172001Free PMC Article
de Visser M
Acta Myol 2020 Dec;39(4):235-244. Epub 2020 Dec 1 doi: 10.36185/2532-1900-027. PMID: 33458579Free PMC Article
Petitclerc É, Hébert LJ, Desrosiers J, Gagnon C
Muscle Nerve 2015 Apr;51(4):473-8. Epub 2015 Feb 25 doi: 10.1002/mus.24521. PMID: 25399769
Mostacciuolo ML, Barbujani G, Armani M, Danieli GA, Angelini C
Genet Epidemiol 1987;4(4):289-98. doi: 10.1002/gepi.1370040407. PMID: 3666435

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
Labayru G, Camino B, Jimenez-Marin A, Garmendia J, Villanua J, Zulaica M, Cortes JM, López de Munain A, Sistiaga A
Sci Rep 2022 Mar 7;12(1):3988. doi: 10.1038/s41598-022-07820-1. PMID: 35256728Free PMC Article
Hofmeister F, Baber L, Ferrari U, Hintze S, Jarmusch S, Krause S, Meinke P, Mehaffey S, Neuerburg C, Tangenelli F, Schoser B, Drey M
BMC Neurol 2021 Jun 25;21(1):241. doi: 10.1186/s12883-021-02264-y. PMID: 34172001Free PMC Article
Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A
Clin Genet 2017 Oct;92(4):355-364. Epub 2017 Feb 22 doi: 10.1111/cge.12954. PMID: 27991661
Meola G
Acta Myol 2013 Dec;32(3):154-65. PMID: 24803843Free PMC Article

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
Labayru G, Jimenez-Marin A, Fernández E, Villanua J, Zulaica M, Cortes JM, Díez I, Sepulcre J, López de Munain A, Sistiaga A
Ann Clin Transl Neurol 2020 Oct;7(10):1802-1815. Epub 2020 Sep 2 doi: 10.1002/acn3.51163. PMID: 32881379Free PMC Article
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G
Hum Mutat 2020 Feb;41(2):420-431. Epub 2019 Nov 4 doi: 10.1002/humu.23932. PMID: 31608518
Labayru G, Aliri J, Zulaica M, López de Munain A, Sistiaga A
J Neuropsychol 2020 Mar;14(1):121-134. Epub 2019 Aug 13 doi: 10.1111/jnp.12192. PMID: 31407859Free PMC Article
Petitclerc É, Hébert LJ, Desrosiers J, Gagnon C
Muscle Nerve 2015 Apr;51(4):473-8. Epub 2015 Feb 25 doi: 10.1002/mus.24521. PMID: 25399769

Recent systematic reviews

Petitclerc É, Hébert LJ, Desrosiers J, Gagnon C
Muscle Nerve 2015 Apr;51(4):473-8. Epub 2015 Feb 25 doi: 10.1002/mus.24521. PMID: 25399769

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