Myotonic disorders and pregnancy [PDF]
Obstetric Medicine, 2020 Myotonic disorders represent significant risk in pregnancy due to their complexity and the risk of maternal and fetal complications. Care of these pregnancies requires detailed pre-conception counselling, close monitoring of mother and fetus during the ...
Adam Morton
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Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders [PDF]
Frontiers in Neurology, 2020 Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
David Kline +2 more
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Nondystrophic myotonic disorders: Cases from India [PDF]
Annals of Indian Academy of Neurology, 2021 Rahul T Chakor, Neelam S Patil
doaj +4 more sources
Efficacy of sodium channel blockers in treating myotonia is independent of action potential sodium current block. [PDF]
J PhysiolAbstract figure legend Contrary to the prevailing view, the therapeutic efficacy of sodium channel blockers in myotonia does not depend on inhibition of the transient sodium current (NaT) responsible for action potentials. In a mouse model of myotonia congenita, effective concentrations of sodium channel blockers did not reduce NaT, but consistently ...
Walker P +9 more
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Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1
Journal of the American Heart Association, 2020 Background Myotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1.
Shingo Sasaki +2 more
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Core Clinical Phenotypes in Myotonic Dystrophies
Frontiers in Neurology, 2018 Myotonic dystrophy type 1 (DM1) and type 2 (DM2) represent the most frequent multisystemic muscular dystrophies in adulthood. They are progressive, autosomal dominant diseases caused by an abnormal expansion of an unstable nucleotide repeat located in ...
Stephan Wenninger +2 more
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Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1
Frontiers in Neurology, 2020 Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1).
Akira Sano
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Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease. [PDF]
J PatholAbstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Hasan MM +9 more
europepmc +2 more sources
Congenital Myotonic Dystrophy in the Neonatal Period -
Listy klinicke logopedie, 2023 Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1), an autosomal dominant multisystem disorder. Myotonic dystrophies are primarily degenerative, genetically determined and progressive disorders of skeletal and smooth
Barbora Červenková
doaj +1 more source
Combined spinal-epidural anesthesia in a patient with spinal muscular atrophy type II undergoing cesarean section: A case report [PDF]
Vojnosanitetski Pregled, 2020 Introduction. Anesthetic management of a patient with spinal muscular atrophy type II, who underwent elective cesarean section with neuraxial anesthesia is presented in this case report. Case report.
Krušić Slavica +2 more
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