Malignant Hyperthermia: An Inherited Disorder of Muscle Calcium Metabolism

Jun 25, 2019 by in NEUROLOGY Comments Off on Malignant Hyperthermia: An Inherited Disorder of Muscle Calcium Metabolism

Keywords Adverse anesthetic event, calcium release, central core disease, dantrolene, malignant hyperthermia, ryanodine receptor, hypermetabolism, rhabdomyolysis, volatile anesthetics, succinylcholine, skeletal muscle, core myopathies, in vitro contracture test   Malignant Hyperthermia—Deaths…

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Muscle Channelopathies: Myotonias and Periodic Paralyses

Jun 25, 2019 by in NEUROLOGY Comments Off on Muscle Channelopathies: Myotonias and Periodic Paralyses

Keywords Muscle channelopathies, chloride and sodium channel myotonias, hyperkalemic, normokalemic and hypokalemic periodic paralysis, Schwartz-Jampel syndrome, epilepsy, episodic ataxia   Introduction Defective ion channels may play a causal role in…

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Neuromuscular Problems of the Critically Ill Neonate and Child

Jun 25, 2019 by in NEUROLOGY Comments Off on Neuromuscular Problems of the Critically Ill Neonate and Child

Keywords Acute neuromuscular disorders, critical illness neuromuscular disorders, neurologic critical care unit, ICU myopathy, ICU polyneuropathy, pediatric critical care neuromuscular disorders   Introduction Acute neuromuscular disorders occasionally confront the pediatric…

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Myotonic Dystrophy

Jun 25, 2019 by in NEUROLOGY Comments Off on Myotonic Dystrophy

Keywords Myotonic dystrophy, congenital myotonic dystrophy, childhood myotonic dystrophy, myotonic dystrophy type 1, myotonic dystrophy type 2, spliceopathy, antisense oligonucleotides   Clinical Presentation and Phenotypes Brief Overview of History and…

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Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies

Jun 25, 2019 by in NEUROLOGY Comments Off on Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies

Keywords Emery-Dreifuss, dystrophy, contractures, cardiac, emerin, laminopathy   Introduction Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder presenting in childhood or adolescence with relatively benign neuromuscular features and potentially…

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Congenital and Other Structural Myopathies

Jun 25, 2019 by in NEUROLOGY Comments Off on Congenital and Other Structural Myopathies

Keywords congenital myopathy, nemaline myopathy, central core disease, multiminicore myopathy, myofibrillar myopathy, centronuclear myopathy, myotubular myopathy, titin myopathy, autophagic vacuolar myopathy, congenital fiber type disproportion   The congenital myopathies are…

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Limb-girdle Muscular Dystrophies

Jun 25, 2019 by in NEUROLOGY Comments Off on Limb-girdle Muscular Dystrophies

Keywords Genetic muscle disease, limb-girdle muscular dystrophy, muscular dystrophy, myopathy, muscle, genetic   Introduction Historical Background and Definition The limb-girdle muscular dystrophies (LGMDs) are a diverse and heterogeneous group of…

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Myopathies of Systemic Disease

Jun 25, 2019 by in NEUROLOGY Comments Off on Myopathies of Systemic Disease

Keywords Systemic diseases, hyperthyroidism, thyrotoxic myopathy, hypothyroidism, parathyroid diseases, Cushing’s syndrome, renal failure, hypokalemia, licorice, HIV, intensive care unit myopathies, medication-related myopathies, inflammatory myopathies   Introduction When evaluating a child…

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