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Nationwide incidence of myotonic dystrophy type 1 and the status of multi-organ involvement
PurposeThis study aimed to investigate the incidence of myotonic dystrophy type 1 (DM1) and the status of multi-organ involvement.
Methods ...
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Development of prediction models based on respiratory assessments to determine the need for non-invasive ventilation in patients with myotonic dystrophy type 1
IntroductionMyotonic dystrophy type 1 is a slowly progressive, multisystem, autosomal dominant disorder, in which the impairments of respiratory...
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Comprehensive pathological and genetic investigation of three young adult myotonic dystrophy type 1 patients with sudden unexpected death
ObjectivesThe mechanism and pathological substrate of arrhythmogenic events in dystrophic myopathy type 1 (DM1) have not been fully established,...
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Remimazolam for a patient with myotonic dystrophy type 1 who underwent endoscopic retrograde cholangiopancreatography under general anesthesia: a case report
BackgroundRemimazolam is a benzodiazepine receptor agonist with an ultra-short-acting anesthetic effect. We used remimazolam for anesthesia in a...
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Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1)
BackgroundCognitive and behavioural symptoms due to involvement of the central nervous system (CNS) are among the main clinical manifestations of...
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Anesthetic management for a patient with myotonic dystrophy with remimazolam
BackgroundPatients with myotonic dystrophy may have increased sensitivity to drugs used for anesthesia. We successfully managed general anesthesia in...
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Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019
BackgroundMyotonic dystrophy (DM) is a rare, inherited disorder with multi-systemic effects that impact the skeletal muscles, eyes, heart, skin and...
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Thymoma-associated myasthenia gravis coexisting with myotonic dystrophy: a case report
BackgroundMyotonic dystrophy (dystrophia myotonica [DM]) is an autosomal-dominant inheritance, and myasthenia gravis (MG) is an autoimmune disease...
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A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report
BackgroundMyotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient...
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Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1
ObjectiveTo investigate Tau pathology using multimodal biomarkers of neurodegeneration and neurocognition in participants with myotonic dystrophy...
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Spontaneous Diaphragmatic Rupture in Muscular Dystrophy Misdiagnosed as Pneumothorax: a Case Report
Diaphragmatic rupture is almost always iatrogenic with variable presentation. It should be diagnosed with high suspicion index in blunt thoracic...
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Pain in adult myotonic dystrophy type 1: relation to function and gender
BackgroundPain is prevalent in myotonic dystrophy 1 (DM1). This study investigated whether CTG repeat size, disease duration, BMI and motor and...
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Fuchs endothelial corneal dystrophy: an updated review
PurposeThe present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment...
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A retrospective study of accuracy and usefulness of electrophysiological exercise tests
ObjectivesThis study aimed to determine the usefulness of electrophysiological exercise tests. The significance of slightly abnormal exercise tests...
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Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States
BackgroundDirect estimates of rare disease prevalence from public health surveillance may only be available in a few catchment areas. Understanding...
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Assessment of muscular strength and functional capacity in the juvenile and adult myotonic dystrophy type 1 population: a 3-year follow-up study
IntroductionMyotonic dystrophy type 1 (DM1) is a progressive, multisystemic, and autosomal dominant disease. Muscle wasting and weakness have been...
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Longitudinal study in patients with myotonic dystrophy type 1: correlation of brain MRI abnormalities with cognitive performances
PurposeMyotonic dystrophy type 1 (DM1) is a muscular dystrophy with neurological, cognitive, and radiological abnormalities. The developmental or...
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Event-related potentials using the auditory novel paradigm in patients with myotonic dystrophy
Many neuropsychological disorders, especially attentional abnormality, are present in patients with myotonic dystrophy type 1 (DM1), but the...
