Keywords Ataxia, cerebellum, episodic ataxia, neurodegeneration, spinocerebellar ataxia   Introduction The dominantly inherited ataxias are a heterogeneous group of neurologic disorders that currently include 30 spinocerebellar ataxias (SCAs), the related…

Keywords Rehabilitation therapies, assistive devices, assistive technology, mobility   Introduction Rehabilitation is that branch of medicine concerned with helping patients gain optimal function within the scope of their physical and…

Keywords Mitochondrial DNA, nuclear DNA, maternal inheritance, heteroplasmy, intergenomic communication, membrane phospholipids, mitochondrial dynamics, mtDNA depletion, single mtDNA deletions, multiple mtDNA deletions, oxidative stress   Introduction Historical Background The history…

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…