Results 171 to 180 of about 15,859 (215)
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Sleep disorders in myotonic dystrophies
Muscle and Nerve, 2020AbstractMyotonic dystrophies (DM), the most common muscular dystrophies, are known to have significant sleep disturbances. We analyzed the literature on sleep and excessive daytime sleepiness (EDS) in DM over the past 30 years. In this review we provide a brief overview of sleep, sleep disorders, and methods of assessment.
Sub H Subramony +2 more
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The diagnosis and treatment of myotonic disorders
Muscle and Nerve, 2013Myotonia is a defining clinical symptom and sign common to a relatively small group of muscle diseases, including the myotonic dystrophies and the nondystrophic myotonic disorders. Myotonia can be observed on clinical examination, as can its electrical correlate, myotonic discharges, on electrodiagnostic testing.
Chad R Heatwole +2 more
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Myotonic Disorders and Channelopathies
Seminars in Neurology, 2015Myotonic dystrophies and channelopathies are rare but important causes of muscle diseases which may present with myotonia, episodic attacks of weakness, fixed muscle weakness, and atrophy or their combination. Here, the authors provide an overview of these disorders and describe their clinical and pathophysiological features, diagnostic methods, and ...
Colin Quinn
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Myotonic dystrophy type 2 and related myotonic disorders
Journal of Neurology, 2004The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting, myotonia, cataracts, hypogonadism and other system manifestations. Myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat in 3' UTR of the DM protein kinase (DMPK) gene on chromosome 19q 13.3.
Giovanni Meola
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Genetics and Physiology of the Myotonic Muscle Disorders
New England Journal of Medicine, 1993The myotonic muscle disorders represent a heterogeneous group of clinically similar diseases sharing the feature of myotonia: delayed relaxation of muscle after voluntary contraction (action myoton...
Louis J Ptáček, Keith J Johnson
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Myotonic dystrophy—a multigene disorder
Brain Research Bulletin, 2001Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy with an estimated incidence of 1/8000 births. The mutation responsible for this condition is an expanded CTG repeat within the 3' untranslated region of the protein kinase gene DMPK.
K, Larkin, M, Fardaei
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Malignant hyperthermia and myotonic disorders
Anesthesiology Clinics of North America, 2002Advances in physiology and molecular genetics have promoted greater understanding of the various clinical manifestations of muscle disorders. For example, myotonia or profound weakness may be observed in sodium channel disease (e.g., paramyotonia congenita or hyperkalemic periodic paralysis), depending on the specific channel defect or with slight ...
Harvey K, Rosenbaum, Jordan D, Miller
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Neurology India, 2008
Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause
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Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause
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DISORDERS OF EYE MOVEMENT IN MYOTONIC DYSTROPHY
Brain, 1990Horizontal saccades and smooth pursuit eye movements were studied in 26 patients with myotonic dystrophy. Clinical neuro-ophthalmological investigations in 1 patient revealed an inability to achieve a full range of eye movements. Electro-oculography showed a significant decrease of the maximum velocity of the visually-guided saccades in 83% of the ...
J P, Ter Bruggen +3 more
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Differential diagnosis of myotonic disorders
Muscle & Nerve, 2007AbstractThe presence of myotonia and paramyotonia on clinical examination and of myotonic discharges during electrodiagnostic (EDX) studies are important for the diagnosis of certain neuromuscular conditions. The increased muscle activity of myotonia produces muscle stiffness that improves with repeated activity. Paramyotonia produces a similar symptom,
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