Quantitative Magnetic Resonance Imaging of the Forearm in Myotonic Dystrophy Type 1 [PDF]
TomographyIntroduction: Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults, characterized by weakness, impaired functional abilities, and myotonia.
Sydney Eierle +9 more
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Validation of the FVB/N-Tg(HSA* LR)20bCath mice of myotonic dystrophy using swallowing function assessment, histology, and immunofluorescence analysis. [PDF]
PLoS ONEMyotonic dystrophy is associated with dysphagia, which can lead to severe complications such as aspiration pneumonia and choking. However, few histopathological studies on dysphagia in myotonic dystrophy have been conducted.
Rie Asayama +5 more
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Therapeutic advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus [PDF]
Frontiers in NeurologyMyotonic Dystrophy (DM) is a hereditary muscle disorder characterized by progressive muscle weakness, myotonia, and multi-system dysfunction. Based on clinical and genetic features, DM can be classified into Type 1 (Type 1 Myotonic Dystrophy, DM1) and ...
Lin Luo +5 more
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Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio +6 more
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Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M. +3 more
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Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy. [PDF]
, 2016 Myotonic dystrophy type I (DM1) exhibits distinctive disease specific phenotypes and the accelerated onset of a spectrum of age-associated pathologies.
Abdallah, Walid F +9 more
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DNA methylation and trinucleotide repeat expansion diseases [PDF]
, 2012 Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
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Pattern retinal dystrophy in a case of myotonic dystrophy
Journal of Clinical Ophthalmology and Research, 2023 Myotonic dystrophy is an autosomal dominant disease which can present with various ocular manifestations. A case of myotonic dystrophy presented with limited visual recovery postcataract surgery. Multimodal imaging analysis, including fundus photography,
Chahveer Singh Bindra +2 more
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The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]
, 2017 Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio +18 more
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Myotonic dystrophy: genetics and clinical polymorphism
Анналы клинической и экспериментальной неврологии, 2019 Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova +4 more
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