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Congenital-onset Steinert myotonic dystrophy

MedGen UID:
1842512
•Concept ID:
C5680305
•
Disease or Syndrome
Synonyms: Congenital-onset myotonic dystrophy type 1; Congenital-onset Steinert disease; congenital-onset Steinert myotonic dystrophy
 
Monarch Initiative: MONDO:0035646
Orphanet: ORPHA589821

Term Hierarchy

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

Professional guidelines

PubMed

Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.
Myring J, Meredith AL, Harley HG, Kohn G, Norbury G, Harper PS, Shaw DJ
J Med Genet 1992 Nov;29(11):785-8. doi: 10.1136/jmg.29.11.785. PMID: 1453427Free PMC Article

Recent clinical studies

Etiology

Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study.
Johnson NE, Butterfield R, Berggren K, Hung M, Chen W, DiBella D, Dixon M, Hayes H, Pucillo E, Bounsanga J, Heatwole C, Campbell C
Neurology 2016 Jul 12;87(2):160-7. Epub 2016 Jun 15 doi: 10.1212/WNL.0000000000002845. PMID: 27306634Free PMC Article
White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study.
Wozniak JR, Mueller BA, Ward EE, Lim KO, Day JW
Neuromuscul Disord 2011 Feb;21(2):89-96. Epub 2010 Dec 18 doi: 10.1016/j.nmd.2010.11.013. PMID: 21169018Free PMC Article
Muscular dystrophies due to glycosylation defects.
Muntoni F, Torelli S, Brockington M
Neurotherapeutics 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. PMID: 19019316Free PMC Article

Diagnosis

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1.
Hildonen M, Knak KL, Dunø M, Vissing J, Tümer Z
Genes (Basel) 2020 Aug 13;11(8) doi: 10.3390/genes11080936. PMID: 32823742Free PMC Article
Myotonic Dystrophy and Developmental Regulation of RNA Processing.
Thomas JD, Oliveira R, Sznajder ŁJ, Swanson MS
Compr Physiol 2018 Mar 25;8(2):509-553. doi: 10.1002/cphy.c170002. PMID: 29687899
White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study.
Wozniak JR, Mueller BA, Ward EE, Lim KO, Day JW
Neuromuscul Disord 2011 Feb;21(2):89-96. Epub 2010 Dec 18 doi: 10.1016/j.nmd.2010.11.013. PMID: 21169018Free PMC Article
Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.
Myring J, Meredith AL, Harley HG, Kohn G, Norbury G, Harper PS, Shaw DJ
J Med Genet 1992 Nov;29(11):785-8. doi: 10.1136/jmg.29.11.785. PMID: 1453427Free PMC Article

Clinical prediction guides

White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study.
Wozniak JR, Mueller BA, Ward EE, Lim KO, Day JW
Neuromuscul Disord 2011 Feb;21(2):89-96. Epub 2010 Dec 18 doi: 10.1016/j.nmd.2010.11.013. PMID: 21169018Free PMC Article
Muscular dystrophies due to glycosylation defects.
Muntoni F, Torelli S, Brockington M
Neurotherapeutics 2008 Oct;5(4):627-32. doi: 10.1016/j.nurt.2008.08.005. PMID: 19019316Free PMC Article
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
Brunner HG, Brüggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, de Die CE, Höweler CJ, van Oost BA, Wieringa B
Am J Hum Genet 1993 Nov;53(5):1016-23. PMID: 8213829Free PMC Article

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