"Myotonic Dystrophy" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.
| Descriptor ID |
D009223
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| MeSH Number(s) |
C05.651.534.500.500 C05.651.662.750 C10.574.500.547 C10.668.491.175.500.500 C10.668.491.606.750 C16.320.400.542 C16.320.577.500
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| Concept/Terms |
Myotonic Dystrophy- Myotonic Dystrophy
- Dystrophies, Myotonic
- Dystrophy, Myotonic
- Myotonic Dystrophies
- Dystrophia Myotonica 1
- Myotonia Atrophica
- Atrophica, Myotonia
- Atrophicas, Myotonia
- Myotonia Atrophicas
- Steinert's Disease
- Disease, Steinert's
- Steinerts Disease
- Myotonic Dystrophy 1
- Steinert Disease
- Disease, Steinert
- Steinert Myotonic Dystrophy
- Dystrophy, Steinert Myotonic
- Myotonic Dystrophy, Steinert
- Dystrophia Myotonica
- Dystrophia Myotonicas
- Myotonica, Dystrophia
- Myotonicas, Dystrophia
- Myotonia Dystrophica
- Dystrophica, Myotonia
- Dystrophicas, Myotonia
- Myotonia Dystrophicas
Myotonic Dystrophy, Congenital- Myotonic Dystrophy, Congenital
- Congenital Myotonic Dystrophy
- Congenital Myotonic Dystrophies
- Dystrophies, Congenital Myotonic
- Dystrophy, Congenital Myotonic
- Myotonic Dystrophies, Congenital
Myotonic Dystrophy 2- Myotonic Dystrophy 2
- Ricker Syndrome
- Syndrome, Ricker
- PROMM (Proximal Myotonic Myopathy)
- PROMMs (Proximal Myotonic Myopathy)
- Proximal Myotonic Myopathy
- Dystrophia Myotonica 2
- Dystrophia Myotonica 2s
- Myotonic Myopathy, Proximal
- Myopathies, Proximal Myotonic
- Myopathy, Proximal Myotonic
- Myotonic Myopathies, Proximal
- Proximal Myotonic Myopathies
|
Below are MeSH descriptors whose meaning is more general than "Myotonic Dystrophy".
Below are MeSH descriptors whose meaning is more specific than "Myotonic Dystrophy".
This graph shows the total number of publications written about "Myotonic Dystrophy" by people in this website by year, and whether "Myotonic Dystrophy" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 7 | 1 | 8 |
| 1996 | 3 | 0 | 3 |
| 1997 | 2 | 0 | 2 |
| 1998 | 4 | 0 | 4 |
| 1999 | 1 | 0 | 1 |
| 2000 | 0 | 3 | 3 |
| 2001 | 2 | 0 | 2 |
| 2002 | 4 | 0 | 4 |
| 2003 | 0 | 1 | 1 |
| 2004 | 4 | 0 | 4 |
| 2005 | 2 | 1 | 3 |
| 2006 | 4 | 0 | 4 |
| 2007 | 5 | 0 | 5 |
| 2008 | 1 | 0 | 1 |
| 2009 | 5 | 0 | 5 |
| 2010 | 2 | 0 | 2 |
| 2011 | 1 | 1 | 2 |
| 2012 | 4 | 1 | 5 |
| 2013 | 6 | 1 | 7 |
| 2014 | 3 | 0 | 3 |
| 2015 | 1 | 1 | 2 |
| 2016 | 2 | 1 | 3 |
| 2017 | 1 | 0 | 1 |
| 2018 | 3 | 0 | 3 |
| 2019 | 1 | 1 | 2 |
| 2020 | 3 | 0 | 3 |
| 2021 | 1 | 0 | 1 |
| 2022 | 3 | 0 | 3 |
| 2023 | 3 | 0 | 3 |
| 2024 | 3 | 0 | 3 |
To return to the timeline,
click here.
Below are the most recent publications written about "Myotonic Dystrophy" by people in Profiles.
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Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1. Hum Mol Genet. 2024 11 05; 33(21):1873-1886.
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Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model. Hum Mol Genet. 2024 10 07; 33(20):1789-1799.
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Combinatorial effects of ion channel mis-splicing as a cause of myopathy in myotonic dystrophy. J Clin Invest. 2024 Jan 02; 134(1).
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The role of Limch1 alternative splicing in skeletal muscle function. Life Sci Alliance. 2023 06; 6(6).
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Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. Lancet Neurol. 2023 03; 22(3):218-228.
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Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function. Nucleic Acids Res. 2023 02 22; 51(3):1245-1259.
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Individual-specific levels of CTG?CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1. Hum Mol Genet. 2023 01 27; 32(4):621-631.
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Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2. Int J Mol Sci. 2022 Nov 26; 23(23).
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2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022 10; 19(10):e61-e120.
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Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation. Muscle Nerve. 2022 05; 65(5):560-567.