{"title":"What Is in the Myopathy Literature?","authors":"David Lacomis","doi":"10.1097/CND.0000000000000440","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>This update begins with the results of a positive trial of intravenous immunoglobulin in dermatomyositis and a study of molecular and morphologic patterns in inclusion body myositis that may explain treatment refractoriness. Single center reports of muscular sarcoidosis and immune-mediated necrotizing myopathy follow. There is also a report of caveolae-associated protein 4 antibodies as a potential biomarker and cause of immune rippling muscle disease. The remainder covers updates on muscular dystrophies as well as congenital and inherited metabolic myopathies with an emphasis on genetic testing. Rare dystrophies, including one involving ANXA11 mutations and a series on oculopharyngodistal myopathy, are discussed.</p>","PeriodicalId":39645,"journal":{"name":"Journal of Clinical Neuromuscular Disease","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Neuromuscular Disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/CND.0000000000000440","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract: This update begins with the results of a positive trial of intravenous immunoglobulin in dermatomyositis and a study of molecular and morphologic patterns in inclusion body myositis that may explain treatment refractoriness. Single center reports of muscular sarcoidosis and immune-mediated necrotizing myopathy follow. There is also a report of caveolae-associated protein 4 antibodies as a potential biomarker and cause of immune rippling muscle disease. The remainder covers updates on muscular dystrophies as well as congenital and inherited metabolic myopathies with an emphasis on genetic testing. Rare dystrophies, including one involving ANXA11 mutations and a series on oculopharyngodistal myopathy, are discussed.
期刊介绍:
Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.