Results 41 to 50 of about 12,609 (254)
BMC Neurology, 2019 Background Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic changes in NDMs.
Takanori Hata +7 more
doaj +1 more source
Neurologic Clinics, 1988 The clinical and electrophysiologic features of myotonia can be seen in a number of human diseases as well as in several well-studied animal models. In some cases the underlying pathophysiologic mechanism has been defined, but different and as yet undetermined membrane abnormalities are present in others.
openaire +2 more sources
Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature. [PDF]
Clin Case RepABSTRACT Stuve‐Wiedemann Syndrome (SWS) is a rare autosomal recessive condition, first reported in 1971 by Stuve and Wiedemann. It is associated with pathogenic or likely pathogenic homozygous or compound heterozygous variants in the Leukemia Inhibitory Factor Receptor (LIFR) gene.
Hamasharef KH +4 more
europepmc +2 more sources
Нервно-мышечные болезни, 2016 Myotonia congenital (MC) is the most common form of the hereditary nondystrophic myotonias caused by mutations in the skeletal muscle chloride channel gene (CLCN1) which change the functional features of muscle fibers membrane.
S. A. Kurbatov +4 more
doaj +1 more source
Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa +10 more
wiley +1 more source
Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia
Journal of Veterinary Internal Medicine, 2017 Myoclonus is a sudden brief, involuntary muscle jerk. Of all the movement disorders, myoclonus is the most difficult to encapsulate into any simple framework.
Mark Lowrie, Laurent S Garosi
semanticscholar +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Implantable Drug Delivery Systems for Skeletal Muscles and Eyes
Advanced NanoBiomed Research, EarlyView.This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov +8 more
wiley +1 more source
Central Role of Subthreshold Currents in Myotonia
Annals of Neurology, 2019 It is generally thought that muscle excitability is almost exclusively controlled by currents responsible for generation of action potentials. We propose that smaller ion channel currents that contribute to setting the resting potential and to ...
Sabrina Metzger +3 more
semanticscholar +1 more source
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source