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Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2
BackgroundMyotonic dystrophy is a multisystem disorder characterized by widespread organic involvement including central nervous system symptoms....
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Afterdischarges in myotonic dystrophy type 1
ObjectiveElectrodiagnostic testing is an important screening test for myotonic dystrophy type 1 (DM1). Although myotonic discharges are observed on...
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Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy,...
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Myotonic dystrophy type 1 in the COVID-19 era
IntroductionMyotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adults. People with DM1 might represent a high-risk...
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Update on Therapy for Myotonic Dystrophy Type 1
Purpose of reviewThis review aimed to summarize the clinical characteristics of myotonic dystrophy type 1 and to provide a comprehensive review of...
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Clinical score for early diagnosis of myotonic dystrophy type 2
IntroductionMyotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is...
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Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles
BackgroundSeverity and nature of cognitive impairments in Myotonic dystrophy type 1 (DM1) are heterogeneous among studies. We hypothesized that this...
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Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
BackgroundAs the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are...
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Current Treatment Options for Patients with Myotonic Dystrophy Type 2
Purpose of the reviewMyotonic dystrophy types 1 and 2 are frequent forms of muscular dystrophies in adulthood. Their clinical differences need to be...
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Ocular findings in a Spanish cohort of myotonic dystrophy type 1
PurposeMyotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present...
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Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks
Background and purposeMyotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder characterized by myotonia and progressive muscle...
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Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1
BackgroundAlthough functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’...
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Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study
IntroductionMyotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy....
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Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy
BackgroundMyotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye,...
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Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1
Background and purposeMyotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy and is caused by an repeat expansion...
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Fundus flavimaculatus-like in myotonic dystrophy: a case report
BackgroundMyotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that...
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Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
AimMuscular dystrophy (MD) is a progressive disease with predominantly muscular symptoms. Myotonic dystrophy type II (MD2) and facioscapulohumeral...
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AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges
The co-occurrence of genetic myopathies with myasthenia gravis (MG) is extremely rare, however a few studies have been reported. We aim to explore...
