Keywords Fatty acid oxidation, lipid storage myopathies, recurrent myoglobinuria Historical Background Defects in fatty acid oxidation (FAO) are an important group of disorders because they are potentially rapidly fatal…
Keywords Ataxia, cardiomyopathy, triplet repeat expansion, epigenetics, mitochondria, iron-sulfur clusters, oxidative stress Introduction In 1863, Nicholaus Friedreich, professor of medicine in Heidelberg, Germany, wrote three articles “about a degenerative…
Keywords Neuromuscular, critical care, heart failure, respiratory failure, ethics, pharmacology Historical Background Patients with neuromuscular diseases may present with cardiac dysfunction, arrhythmia, or respiratory failure. Information in the literature…
Keywords Causalgia syndrome, childhood CRPS, complex regional pain syndrome, CRPS, reflex sympathetic dystrophy Introduction The definitions of reflex sympathetic dystrophy (RSD) and causalgia syndromes have been revised recently to…
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…
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…
Keywords Oromotor disorders, oral-motor dysfunction, congenital facial paresis, dysphagia, swallowing and feeding disorders, brainstem dysgenesis Introduction Sucking, chewing, and swallowing are vital functions that are dependent upon the coordinated…
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…
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…
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…
