Index. Note: Page numbers of article titles are in boldface type.
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1 Index Note: Page numbers of article titles are in boldface type. A Acid a-glucosidase deficiency (Pompe disease), 208, 237, 241, 293 Actin defects, in myopathies, 280 Acyl-coenzyme A dehydrogenase deficiency, 294 Adaptive devices, for muscular dystrophy, Adaptive immune response, in polymyositis and dermatomyositis, Aggregates, in inclusion body myositis, 298 Aldolase, in myositis, 151 Alemtuzumab, for inclusion body myositis, 179 Allele-specific oligonucleotide analysis, for myopathies, 274 Aminoacyl-transfer RNA synthetase, antibodies to, in polymyositis and dermatomyositis, 150, Aminoglycoside-induced deafness, 281 Amiodarone, myopathy due to, Amyloid deposits, in inclusion body myositis, , 298 Amyopathic dermatomyositis, 144, Andersen disease (glycogen storage disease type IV), 208 Anesthetics, malignant hyperthermia due to, 225 Angina, in dermatomyositis, 149 Antiaminoacyl-transfer RNA synthetase antibodies, in polymyositis and dermatomyositis, 150, Antiarrhythmic agents, myopathy due to, Antibacterial agents, myopathy due to, 224 Antibodies. See also specific antibodies. in polymyositis and dermatomyositis, , 191 Antifungal agents, myopathy due to, 224 Antihistidyl-tRNA synthetase antibodies, in polymyositis and dermatomyositis, 150, 160 Antimicrobials, myopathy due to, Antinuclear antibodies, in polymyositis and dermatomyositis, 160 Antipsychotics, myopathy due to, 225 Antisynthetase autoantibodies, 152 Anti-T-lymphocyte globulin, for inclusion body myositis, 179 Antiviral agents, myopathy due to, Apoptosis, in polymyositis and dermatomyositis, Arimoclomol, for inclusion body myositis, 179 Arrhythmias in dermatomyositis, in muscular dystrophy, 242 Arthralgia and arthritis, in polymyositis and dermatomyositis, 145 Aspiration pneumonia, in polymyositis and dermatomyositis, Atorvastatin, myopathy due to, Autoimmune necrotizing myopathy, Rheum Dis Clin N Am 37 (2011) doi: /s x(11) rheumatic.theclinics.com X/11/$ see front matter ª 2011 Elsevier Inc. All rights reserved.
2 310 Index Autophagy, in polymyositis and dermatomyositis, 166 Autosomal dominant inheritance, of myopathies, 271 Autosomal recessive inheritance, of myopathies, 271 Axons, physiology of, electrodiagnostic testing and, Azacytidine, myopathy due to, 224 B B lymphocytes, in polymyositis and dermatomyositis, Becker muscular dystrophy, , 239, , , 278 b-enolase deficiency (glycogen storage disease type XIII), Betamethasone, myopathy due to, Bethlem myopathy, Biopsy, muscle as gold standard, 289 for dermatomyositis, 151 for drug-induced myopathies, for idiopathic inflammatory myopathies, for inclusion body myositis, for metabolic myopathies, for polymyositis, 151 procedure for, 290 Bohan and Peter criteria, for idiopathic inflammatory myopathies, Brancher enzyme deficiency (glycogen storage disease type IV), 208 Bronchoalveolar lavage, for polymyositis and dermatomyositis, 150 C Calcinosis, cutaneous, in dermatomyositis, 147 Calpain-3 defects, in muscular dystrophy, 278 Cancer. See Malignancy. Cardiac manifestations of dermatomyositis, of muscular dystrophy, Cardiomyopathy, in dermatomyositis, Carnitine deficiency, 237, 294 Carnitine palmitoyltransferase deficiency, , 294 Caveolin-3 defects, in muscular dystrophy, 235, 278 Cell death, in polymyositis and dermatomyositis, Cell-mediated immune response, in polymyositis and dermatomyositis, Central core myopathy, Channelopathies, Chemokines, in polymyositis and dermatomyositis, Chemotherapy drugs, myopathy due to, 224 Chloride channel defects, in muscular dystrophy, Chloroquines, myopathy due to, 223, Chromosome analysis, for myopathies, Cimetidine, myopathy due to, 224 Coenzyme Q deficiency, in mitochondrial oxidative phosphorylation disorders, 214 Colchicine, myopathy due to, , Compartment syndrome, MRI for, 249
3 Index 311 Complement activation, in dermatomyositis, Complex repetitive discharges, in electromyography, Compound motor action potential, in nerve conduction studies, 264 Computed tomography for dermatomyositis, 150, 153 for muscle injury and disease, 245 for polymyositis, 150, 153 Conduction abnormalities, in dermatomyositis, Congestive heart failure, in dermatomyositis, Cori-Forbes disease (glycogen storage disease type III), 208 Corticosteroids for inclusion body myositis, for muscular dystrophy, 241 myopathy due to, 222, Cough, in polymyositis and dermatomyositis, Cramp, in electromyography, 262 Craniobulbar weakness, myopathies in, 238 Creatine kinase in inclusion body myositis, 175 in Mc Cardle disease, 208 in muscular dystrophy, 278 Creatine phosphokinase, in muscular dystrophy, 234 Cyclic vomiting syndrome, 281 Cyclooxygenase, in polymyositis and dermatomyositis, 163 Cyclophosphamide, myopathy due to, 224 Cyclosporine, myopathy due to, 223 Cytarabine, myopathy due to, 224 Cytokeratin, in myositis, Cytokines, in polymyositis and dermatomyositis, Cytomegalovirus infections, myositis and, 162 D Deafness, aminoglycoside-induced, 281 Denaturing gradient gel electrophoresis, for myopathies, Dendritic cells, in myositis, , 178 Dermatologic manifestations, of dermatomyositis, Dermatomyositis amyopathic, 144, antibodies in, cardiac manifestations of, definition of, 144 dermatologic manifestations of, differential diagnosis of, electromyography for, 153 epidemiology of, gastrointestinal manifestations of, imaging for, 153 in malignancy, 145 joint manifestations of, 145 juvenile, 145, 147
4 312 Index Dermatomyositis (continued) laboratory testing for, 151 MRI for, muscle biopsy for, 151 muscular manifestations of, 144 overlap syndrome with, 145 paraneoplastic muscle disease in, pathology of, pathophysiology of, pulmonary manifestations of, Desmin-related myopathy, 280 Dexamethasone, myopathy due to, ,4-Diaminopuridine, for Lambert-Eaton myasthenic syndrome, 237 Didanosine, myopathy due to, Distal myopathies, DNA analysis, for myopathies, 272 DNA sequencing, for myopathies, Drug-induced muscle disease, antimicrobials, cardiovascular drugs, gastrointestinal drugs, 224 neurologic drugs, oncology drugs, 224 pathology of, rheumatologic drugs, Duchenne muscular dystrophy, , 239, , 278 Dysferin defects, in muscular dystrophy, , 278 Dysphagia, in myositis, , 174 Dyspnea, in polymyositis and dermatomyositis, Dystrophic myotonica protein kinase defects, in muscular dystrophy, 236 Dystrophin gene, deletions in, 278 Dystrophinopathies, , 239, E Eaton-Lambert syndrome, paraneoplastic muscle disease in, Edema, muscle in myositis, 153 MRI for, 248 Electrodes, for electromyography, 256 Electrodiagnostic testing. See also Electromyography. case presentation of, limitations of, 253 muscle physiology and, nerve conduction studies, repetitive stimulation studies, 265 Electromyography, complications of, for dermatomyositis, 153 for inclusion body myositis, 175 for polymyositis, 153 limitations of, 253
5 Index 313 muscle physiology and, sampling in, 256 single-fiber, 262 spontaneous activity evaluation in, technical factors in, 263 voluntary activity evaluation in, Emerin defects, in muscular dystrophy, 280 Emery-Dreifuss muscular dystrophy, 280 Encephalopathy, subacute necrotizing, 281 Endomysial inflammatory infiltrates in inclusion body myositis, , in polymyositis and dermatomyositis, 162, Endoplasmic reticulum stress, in polymyositis and dermatomyositis, 165 End-plate spikes, in electromyography, 258 Enzyme replacement therapy, for Pompe disease, 241 Eosinophilic intracytoplasmic inclusions, in inclusion body myositis, 177 Erythema, in dermatomyositis, 145, 295 Esophageal weakness, in myositis, Etanercept, for inclusion body myositis, 179 Ezetimibe, myopathy due to, F Facioscapulohumeral muscular dystrophy, 236, 238, 271, Falling, in inclusion body myositis, 174 Fasciculation, in electromyography, Fatty acid oxidation disorders, , 294 Fibric acid derivatives, myopathy due to, Fibrillation, in electromyography, Fluorescent in situ hybridization, for myopathies, 274 Fluvastatin, myopathy due to, G Gastrointestinal drugs, myopathy due to, 224 Gastrointestinal manifestations, of myositis, Gel electrophoresis, for myopathies, Gemfibrozil, myopathy due to, 221 Gene therapy, for muscular dystrophy, 241 Genetic factors, in inclusion body myositis, 174 Glycogen metabolic disorders myopathies in, , 237 pathology of, Glycogen phosphorylase deficiency, in Mc Cardle disease, 202, 206, 208, 293 Gottron papules, in dermatomyositis, 145, 295 Granzyme, in polymyositis and dermatomyositis, 162 Grouped discharge, in electromyography, 261 H Heart disorders in dermatomyositis, in muscular dystrophy, , 242
6 314 Index Heliotrope rash, in dermatomyositis, 145, Hematoma, MRI for, 246 Hemorrhage, muscle, MRI for, Hereditary inclusion body myositis, 173 Hers disease (glycogen storage disease type VI), 208 High mobility group box 1 protein, in polymyositis and dermatomyositis, Histidyl-tRNA synthetase, antibodies to, in polymyositis and dermatomyositis, 150, 160 Humoral immune response, in polymyositis and dermatomyositis, Hydroxychloroquine, myopathy due to, Hyperexcitability, peripheral nerve, in electromyography, Hyperkalemic periodic paralysis, Hyperkeratosis, in dermatomyositis, 145, 147 Hypermobility, joint, in muscular dystrophy, Hyperuricemia, in Mc Cardle disease, 208 Hypokalemic periodic paralysis, Hypoventilation, in polymyositis and dermatomyositis, Hypoxia, in polymyositis and dermatomyositis, 164 I Idiopathic nonspecific interstitial pneumonia, in polymyositis and dermatomyositis, 150 Imatinib mesylate, myopathy due to, 224 Immune response, in polymyositis and dermatomyositis adaptive, innate, Immunoglobulin(s), intravenous, for inclusion body myositis, 179 Immunomodulators, myopathy due to, Inclusion body myositis, causes of, 299 clinical features of, 174 diagnosis of, 175, 299 differential diagnosis of, electrodiagnostic findings in, 175 epidemiology of, hereditary, 173 histopathology of, laboratory findings in, 175 MRI for, pathogenesis of, pathology of, terminology of, 173 treatment of, Infections, after electromyography, 262 Infectious disease drugs, myopathy due to, Inheritance, of myopathies, 271 Innate immune response, in polymyositis and dermatomyositis, Insertional activity, in electromyography, Interferons for inclusion body myositis, 179 in polymyositis and dermatomyositis, Interleukins, in polymyositis and dermatomyositis, Interstitial lung disease, in polymyositis and dermatomyositis,
7 Index 315 intravenous, for inclusion body myositis, 179 Ion channel mutations, in myotonic muscular dystrophy, Ischemia, muscle, MRI for, 249 Itraconazole, myopathy due to, 224 J Jo-1, antibodies to, in polymyositis and dermatomyositis, 150, Joint disorders in dermatomyositis, 145 in muscular dystrophy, in polymyositis, 145 Juvenile dermatomyositis, dermatologic manifestations of, 145, 147 K Kearns-Sayre syndrome, 214, 281, Kennedy disease, 238 Ketoconazole, myopathy due to, 224 L Lactose hydrogenase deficiency (glycogen storage disease type XI), 211 Lambert-Eaton myasthenic syndrome, 237 Lamin A/C defects, in muscular dystrophy, 235, 278, 280 Lamivudine, myopathy due to, Leber hereditary optic neuropathy, 282 Leigh disease, 281, Leuprolide, myopathy due to, 224 Levodopa, myopathy due to, 225 Limb girdle muscular dystrophy, , 241, 271, 278 Limb girdle weakness, Lipid storage disorders, myopathies in, 237 Lipid-lowering agents, myopathy due to, Long-chain acyl-coa dehydrogenase deficiency, Lovastatin, myopathy due to, M Mc Cardle disease (glycogen storage disease type V), 202, 206, 208, 293 Macrophages, in polymyositis and dermatomyositis, Magnetic resonance imaging, 153 for dermatomyositis, 153 for muscle injury and disease, for polymyositis, 153 Major histocompatibility complex molecules in inclusion body myositis, 174 in polymyositis and dermatomyositis, Malignancy clinical course of, 187, 189 dermatomyositis in, 145, drugs for, myopathy due to, 224 Eaton-Lambert syndrome in, , 237
8 316 Index Malignancy (continued) evaluation for, in amyopathic myopathy, 148 myasthenia gravis in, 194 necrotizing myopathy in, 193 pathogenesis of, polymyositis in, risk factors for, stiff person syndrome in, types of, 187 Malignant hyperthermia, antipsychotic-induced, 225 Mapping, chromosome, for myopathies, Mechanic s hands, in dermatomyositis, 145 MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), 282, MERRF (myoclonic epilepsy and ragged-red fibers), 214, 282, Metabolic myopathies, categories of, 205, 208 classification of, clinical features of, 204 diagnosis of, , 215 differential diagnosis of, dynamic, 202 fatty acid oxidation disorders, , 294 metabolic pathways in, 201, mitochondrial oxidative phosphorylation disorders, 202, 207, , , pathology of, phenotypes of, 204 static, 202 Mevalonate, impaired synthesis of, 300 Miniature endplate potentials, in electromyography, 258 Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), 282, Mitochondrial inheritance, of myopathies, 271 Mitochondrial oxidative phosphorylation disorders, 202, 207, , , Mitoxantrone, myopathy due to, 224 Miyoshi myopathy, 239 Molecular diagnosis, of myopathies, DNA investigations, 272 dystrophinopathies, indications for, known mutant detection, laboratory investigations, mitochondrial, modes of inheritance and, 271 nondystrophic, RNA investigations, 272 techniques for, 270 Motor neurons, physiology of, electrodiagnostic testing and,
9 Motor unit(s), physiology of, electrodiagnostic testing and, Motor unit action potential, 255, 257 MRI. See Magnetic resonance imaging. Multi-minicore disease, Muscle(s) aches of, after electromyography, 262 biopsy of. See Biopsy, muscle. edema of, 153, 248 hemorrhage of, hypertrophy of, in muscular dystrophy, 240 imaging of, ischemia of, 249 necrosis of, 249, physiology of, electrodiagnostic testing and, trauma to, Muscle relaxants, malignant hyperthermia due to, 225 Muscular dystrophies, Becker, , 239, , , 278 clinical syndromes of, craniobulbar weakness in, 238 diagnosis of, 234 Duchenne, , 239, , 278 dystrophinopathies, Emery-Dreifuss, 280 facioscapulohumeral, 236, 238, 271, inheritance of, 271 limb girdle, , 241, 271, 278 molecular diagnosis of, myotonic, 236, 238, , oculopharyngeal, 238, 280 treatment of, versus distal myopathies, versus neurologic conditions, 237 versus nondystrophic myopathies, Myalgia in dermatomyositis, 144 in polymyositis, 144 Myasthenia gravis myopathies in, paraneoplastic muscle disease in, 194 D-penicillamine-induced, 301 Myoadenylate deaminase deficiency, 294 Myocardial disorders, in dermatomyositis, Myoclonic epilepsy and ragged-red fibers (MERRF), 214, 282, Myofibrillar myopathy, 239, 280 Myoglobinuria, in Mc Cardle disease, 208 Myokymia, in electromyography, 261 Myopathy(ies) autoimmune necrotizing, Bethlem, central core, Index 317
10 318 Index Myopathy(ies) (continued) dermatomyositis. See Dermatomyositis. desmin-related, 280 distal, drug-induced, , dystrophic. See Muscular dystrophies. electrophysiologic studies for, imaging for, in ion channel defects, in neurologic diseases, inclusion body myositis. See Inclusion body myositis. metabolic, , mitochondrial, 202, 207, , Miyoshi, 239 molecular diagnosis of, myofibrillar, 239, 280 necrotizing, 193 nemaline, 239, 280 Nonaka, 239 nondystrophic, paraneoplastic, , 237 pathology of, polymyositis. See Polymyositis. Udd, 238 Welander, 238 Myositis. See also Dermatomyositis; Inclusion body myositis; Polymyositis. MRI for, Myositis-associated autoantibodies, , 295 Myositis-specific autoantibodies, Myotilin defects, in muscular dystrophy, Myotonia, in electromyography, 260 Myotonic muscular dystrophy, 236, 238, , N Nail fold telangiectasia, in dermatomyositis, 145 Nebulin defects, in myopathies, 280 Necrosis, muscle in dermatomyositis, MRI for, 249 Necrotizing encephalopathy, subacute, 281 Necrotizing myopathy autoimmune, paraneoplastic muscle disease in, 193 Needles, in electromyography, 256 Nemaline myopathy, 239, 280 Nerve conduction studies, Nerve injury, MRI for, 249 Neurologic drugs, myopathy due to, Neuromuscular junction disorders, myopathies in, 237 Neuromyotonia, in electromyography, 262
11 Index 319 Niacin, myopathy due to, Nonaka myopathy, 239 Nonsynthetase autoantibodies, 152 O Oculopharyngeal muscular dystrophy, 238, 280 Omeprazole, myopathy due to, 224 Oncology drugs, myopathy due to, 224 Optic neuropathy, Leber hereditary, 282 Overlap syndrome, dermatomyositis with, 145 P Paramyotonic congenita, 280 Paraneoplastic muscle disease, dermatomyositis, Eaton-Lambert syndrome, , 237 epidemiology of, myasthenia gravis in, 194 necrotizing myopathy, 193 polymyositis, stiff person syndrome, types of cancer in, 187 D-Penicillamine, myopathy due to, 223, Perforin, in polymyositis and dermatomyositis, 162 Pericardial tamponade, in dermatomyositis, 149 Perifascicular atrophy, in dermatomyositis, 151, Periodic paralysis, in channelopathies, Peripheral neuropathy colchicine-induced, electromyography for, in inclusion body myositis, 174 nerve conduction studies for, Periungual erythema, in dermatomyositis, 145 Phenytoin, myopathy due to, Phosphofructokinase deficiency (glycogen storage disease type VII), 202, 206, 208, 293 Phosphoglycerate kinase deficiency, Phosphoglycerate mutase deficiency (glycogen storage disease type X), 210 Phosphorylase b kinase deficiency (glycogen storage disease type IXd), 202, Pityriasis rubra polaris-like lesions, in dermatomyositis, 147 Plasma cells, in myositis, , 178 Pneumomediastinum, in polymyositis and dermatomyositis, 150 Pneumonia aspiration, in polymyositis and dermatomyositis, idiopathic nonspecific interstitial, 150 Poikiloderma, in dermatomyositis, 147 Polyadenylate binding protein 2 defects, in muscular dystrophy, 280 Polymerase chain reaction, for myopathies, 272 Polymyositis, antibodies in,
12 320 Index Polymyositis (continued ) definition of, 144 differential diagnosis of, electromyography for, 153 epidemiology of, gastrointestinal manifestations of, imaging for, 153 joint manifestations of, 145 laboratory testing for, 151 MRI for, muscle biopsy for, 151 muscular manifestations of, 144 paraneoplastic muscle disease in, pathology of, pathophysiology of, pulmonary manifestations of, Polyphasia, in electromyography, 257 Pompe disease (glycogen storage disease type type II), 208, 237, 241, 293 Positive pressure ventilatory support, for muscular dystrophy, 242 Positive sharp waves, in electromyography, 259 Potassium disorders, periodic paralysis in, Pravastatin, myopathy due to, Procainamide, myopathy due to, 222 Prostaglandin E synthase, in polymyositis and dermatomyositis, 163 Protein misfolding, in inclusion body myositis, 178 Proton pump inhibitors, myopathy due to, 224 Pruritus, in dermatomyositis, Psychiatric drugs, myopathy due to, Pulmonary manifestations, of polymyositid and dermatomyositis, PYGM gene mutations, in Mc Cardle disease, 208 R Radiography, for muscle injury and disease, 245 Ranitidine, myopathy due to, 224 Rash, heliotrope, in dermatomyositis, 145, Raynaud phenomenon, in dermatomyositis, 147 Recruitment, in electromyography, 257 Repetitive discharges, complex, in electromyography, Repetitive stimulation, 265 Respiratory muscle weakness, in muscular dystrophy, Restriction fragment length polymorphism, for myopathies, 272 Retinoic acid, myopathy due to, 224 Rhabdomyolysis MRI for, 249 statin-induced, 221, 300 Rheumatologic drugs, myopathy due to, Rimmed vacuoles, in inclusion body myositis, , 298 Ritonavir, myopathy due to, 224 RNA analysis, for myopathies, 272 Ryanodine receptor defects, in myopathies, 280
13 Index 321 S Sarcoglycan defects, in muscular dystrophy, 235 Scintigraphy, for muscle injury and disease, 245 Selenoprotein, in myopathies, 280 Sequencing, for myopathies, Sharp waves, positive, in electromyography, 259 Shawl sign, in dermatomyositis, 145 Simvastatin, myopathy due to, Single-fiber electromyography, 262 Small nuclear rnp antibodies, 152 Sodium channel defects, in muscular dystrophy, Spinal and bulbar muscular atrophy, 238, 272 Spontaneous muscle activity, evaluation of, electromyography, Sporadic inclusion body myositis. See Inclusion body myositis. Statins, myopathy due to, , 204, , Stiff person syndrome, paraneoplastic muscle disease in, Sun sensitivity, in dermatomyositis, 146 Survival motor neuron gene deletions, myopathies in, 237 Synthetase, antibodies to, 152 T T lymphocytes, in myositis, , 178, 296 T tubules, physiology of, electrodiagnostic testing and, Tacrolimus, myopathy due to, 223 TAR DNA-binding protein-43, in inclusion body myositis, Tarui disease (glycogen storage disease type VII), 202, 206, , 293 Telangiectasia, in dermatomyositis, 145 Telethonin defects, in muscular dystrophy, Temperature gradient gel electrophoresis, for myopathies, Tenofovir, myopathy due to, 224 Thymidine kinase defects, 214 Titin defects, in muscular dystrophy, Trauma, muscle, MRI for, Triamcinolone, myopathy due to, Trifunctional protein deficiency, Tropomyosin defects, in myopathies, 280 Troponin defects, in myopathies, 280 Tumor necrosis factor-a, in polymyositis and dermatomyositis, 162 U Udd distal myopathy, 238 Ultrasonography for dermatomyositis, 153 for muscle injury and disease, 245 for polymyositis, 153 V V sign, in dermatomyositis, 145 Valproic acid, myopathy due to,
14 322 Index Vasculitis, in dermatomyositis, 147 Ventilation support, for muscular dystrophy, 242 Very long-chain acyl-coa dehydrogenase deficiency, Vincristine, myopathy due to, 224 Vitamin B6, for Mc Cardle disease, 208 Voluntary muscle activity, evaluation of, electromyography for, von Gierke disease (glycogen storage disease type I), 208 W Weakness craniobulbar, 238 in dermatomyositis, 144 in inclusion body myositis, in muscular dystrophy, in polymyositis, 144 limb girdle, Welander distal myopathy, 238 Z Zalcitabine, myopathy due to, Zidovudine, myopathy due to, , 301
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