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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 pregnancy and a delivery and postpartum plan involving a multidisciplinary team approach.
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.
Alayne P. Meyer +6 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
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Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 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.
Hideki Itoh +14 more
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Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy. [PDF]
PLoS Genetics, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
Johann Böhm +12 more
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Therapy in myotonic disorders and in muscle channelopathies [PDF]
Neurological Sciences, 2000 Myotonia and muscle weakness are cardinal features of myotonic disorders including the myotonic dystrophies and the non-dystrophic myotonias. Despite the recent progress in molecular genetics of these myotonic disorders, the precise mechanisms responsible for myotonia and for permanent or episodic muscle weakness are still unclear.
Giovanni Meola
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Myotonic disorders: A review article. [PDF]
Iran J Neurol, 2016 The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability ...
Hahn C, Salajegheh MK.
europepmc +2 more sources
New Classification and Treatment for Myotonic Disorders
Internal Medicine, 2005 Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported.
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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
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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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