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Juvenile-onset Steinert myotonic dystrophy

MedGen UID:
1843227
•Concept ID:
C5680306
•
Disease or Syndrome
Synonyms: Juvenile-onset myotonic dystrophy type 1; Juvenile-onset Steinert disease; juvenile-onset Steinert myotonic dystrophy
 
Monarch Initiative: MONDO:0035648
Orphanet: ORPHA589827

Term Hierarchy

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

Recent clinical studies

Etiology

Differences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1.
Woo J, Lee HW, Park JS
J Clin Neurosci 2019 Oct;68:92-96. Epub 2019 Jul 29 doi: 10.1016/j.jocn.2019.07.029. PMID: 31371188
Brain gray matter structural network in myotonic dystrophy type 1.
Sugiyama A, Sone D, Sato N, Kimura Y, Ota M, Maikusa N, Maekawa T, Enokizono M, Mori-Yoshimura M, Ohya Y, Kuwabara S, Matsuda H
PLoS One 2017;12(11):e0187343. Epub 2017 Nov 2 doi: 10.1371/journal.pone.0187343. PMID: 29095898Free 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
Characteristics of dynamic mutation in Japanese myotonic dystrophy.
Yamagata H, Miki T, Yamanaka N, Takemoto Y, Kanda F, Takahashi K, Inui T, Kinoshita M, Nakagawa M, Higuchi I
Jpn J Hum Genet 1994 Sep;39(3):327-35. doi: 10.1007/BF01874051. PMID: 7841443
Iris neovascular tufts. Relationship to rubeosis, insulin, and hypotony.
Mason GI
Arch Ophthalmol 1979 Dec;97(12):2346-52. doi: 10.1001/archopht.1979.01020020562014. PMID: 92984

Diagnosis

Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital.
Cascais I, Garrido C, Morais L, Amorim R, Lima R, Mansilha HF, Correia T, Oliveira A, Santos M
Eur J Paediatr Neurol 2024 Jan;48:85-90. Epub 2023 Dec 6 doi: 10.1016/j.ejpn.2023.12.001. PMID: 38088012
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

Therapy

Iris neovascular tufts. Relationship to rubeosis, insulin, and hypotony.
Mason GI
Arch Ophthalmol 1979 Dec;97(12):2346-52. doi: 10.1001/archopht.1979.01020020562014. PMID: 92984

Prognosis

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
Trottier Y, Biancalana V, Mandel JL
J Med Genet 1994 May;31(5):377-82. doi: 10.1136/jmg.31.5.377. PMID: 8064815Free PMC Article

Clinical prediction guides

Differences in the pattern of cognitive impairments between juvenile and adult onset myotonic dystrophy type 1.
Woo J, Lee HW, Park JS
J Clin Neurosci 2019 Oct;68:92-96. Epub 2019 Jul 29 doi: 10.1016/j.jocn.2019.07.029. PMID: 31371188
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
Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.
Trottier Y, Biancalana V, Mandel JL
J Med Genet 1994 May;31(5):377-82. doi: 10.1136/jmg.31.5.377. PMID: 8064815Free PMC Article
Characteristics of dynamic mutation in Japanese myotonic dystrophy.
Yamagata H, Miki T, Yamanaka N, Takemoto Y, Kanda F, Takahashi K, Inui T, Kinoshita M, Nakagawa M, Higuchi I
Jpn J Hum Genet 1994 Sep;39(3):327-35. doi: 10.1007/BF01874051. PMID: 7841443
Tracking disease genes by reverse genetics.
Pignatti PF, Turco AE
J Psychiatr Res 1992 Oct;26(4):287-98. doi: 10.1016/0022-3956(92)90035-m. PMID: 1491355

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