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Childhood-onset Steinert myotonic dystrophy

MedGen UID:
1842487
Concept ID:
C5680307
Disease or Syndrome
Synonyms: Childhood-onset myotonic dystrophy type 1; Childhood-onset Steinert disease; childhood-onset Steinert myotonic dystrophy
 
Monarch Initiative: MONDO:0035647
Orphanet: ORPHA589824

Term Hierarchy

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

Professional guidelines

PubMed

Palladino A, D'Ambrosio P, Papa AA, Petillo R, Orsini C, Scutifero M, Nigro G, Politano L
Acta Myol 2016 Dec;35(3):128-134. PMID: 28484313Free PMC Article
Meola G
Acta Myol 2013 Dec;32(3):154-65. PMID: 24803843Free PMC Article

Recent clinical studies

Etiology

Trucco F, Albamonte E, Pane M, Ricci F, D'amico A, Astrea G, Moroni I, Pini A, Fiorillo C, Berardinelli A, Johnson NE, Sansone VA; DM1 Paediatric Working Group
Dev Med Child Neurol 2025 Mar;67(3):365-373. Epub 2024 Sep 4 doi: 10.1111/dmcn.16079. PMID: 39231278Free PMC Article
Stokes M, Varughese N, Iannaccone S, Castro D
Muscle Nerve 2019 Dec;60(6):732-738. Epub 2019 Oct 23 doi: 10.1002/mus.26716. PMID: 31520483
Ho G, Carey KA, Cardamone M, Farrar MA
Arch Dis Child 2019 Jan;104(1):48-52. Epub 2018 Jun 5 doi: 10.1136/archdischild-2018-314837. PMID: 29871899
Sjögreen L, Mårtensson Å, Ekström AB
Int J Lang Commun Disord 2018 May;53(3):576-583. Epub 2018 Jan 12 doi: 10.1111/1460-6984.12370. PMID: 29327796
Palladino A, D'Ambrosio P, Papa AA, Petillo R, Orsini C, Scutifero M, Nigro G, Politano L
Acta Myol 2016 Dec;35(3):128-134. PMID: 28484313Free PMC Article

Diagnosis

Trucco F, Albamonte E, Pane M, Ricci F, D'amico A, Astrea G, Moroni I, Pini A, Fiorillo C, Berardinelli A, Johnson NE, Sansone VA; DM1 Paediatric Working Group
Dev Med Child Neurol 2025 Mar;67(3):365-373. Epub 2024 Sep 4 doi: 10.1111/dmcn.16079. PMID: 39231278Free PMC Article
Kleefeld F, Schoser B
Curr Opin Neurol 2023 Oct 1;36(5):474-478. Epub 2023 Jul 18 doi: 10.1097/WCO.0000000000001186. PMID: 37639480
Stokes M, Varughese N, Iannaccone S, Castro D
Muscle Nerve 2019 Dec;60(6):732-738. Epub 2019 Oct 23 doi: 10.1002/mus.26716. PMID: 31520483
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
Echenne B, Bassez G
Handb Clin Neurol 2013;113:1387-93. doi: 10.1016/B978-0-444-59565-2.00009-5. PMID: 23622362

Therapy

Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM
Muscle Nerve 2022 Jul;66(1):50-62. Epub 2022 May 9 doi: 10.1002/mus.27558. PMID: 35428982Free PMC Article
Horrigan J, Gomes TB, Snape M, Nikolenko N, McMorn A, Evans S, Yaroshinsky A, Della Pasqua O, Oosterholt S, Lochmüller H
Pediatr Neurol 2020 Nov;112:84-93. Epub 2020 Aug 5 doi: 10.1016/j.pediatrneurol.2020.08.001. PMID: 32942085

Prognosis

Stokes M, Varughese N, Iannaccone S, Castro D
Muscle Nerve 2019 Dec;60(6):732-738. Epub 2019 Oct 23 doi: 10.1002/mus.26716. PMID: 31520483
Fontinha C, Engvall M, Sjögreen L, Kiliaridis S
Eur J Orthod 2018 Sep 28;40(5):544-548. doi: 10.1093/ejo/cjx104. PMID: 29420722
Meola G
Acta Myol 2013 Dec;32(3):154-65. PMID: 24803843Free PMC Article
Seiler J, Bope ET
Am Fam Physician 1986 Jul;34(1):123-8. PMID: 3728255
O'Brien TA, Harper PS
Dev Med Child Neurol 1984 Feb;26(1):62-7. doi: 10.1111/j.1469-8749.1984.tb04407.x. PMID: 6230279

Clinical prediction guides

Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM
Muscle Nerve 2022 Jul;66(1):50-62. Epub 2022 May 9 doi: 10.1002/mus.27558. PMID: 35428982Free PMC Article
Fontinha C, Engvall M, Sjögreen L, Kiliaridis S
Eur J Orthod 2018 Sep 28;40(5):544-548. doi: 10.1093/ejo/cjx104. PMID: 29420722
Sjögreen L, Mårtensson Å, Ekström AB
Int J Lang Commun Disord 2018 May;53(3):576-583. Epub 2018 Jan 12 doi: 10.1111/1460-6984.12370. PMID: 29327796
Palladino A, D'Ambrosio P, Papa AA, Petillo R, Orsini C, Scutifero M, Nigro G, Politano L
Acta Myol 2016 Dec;35(3):128-134. PMID: 28484313Free PMC Article
Echenne B, Bassez G
Handb Clin Neurol 2013;113:1387-93. doi: 10.1016/B978-0-444-59565-2.00009-5. PMID: 23622362

Supplemental Content

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