{"title":"Genetics of Muscle Disease.","authors":"Carrie J Finno","doi":"10.1016/j.cveq.2024.10.002","DOIUrl":null,"url":null,"abstract":"<p><p>In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy. These diseases should be tested for in the appropriate breeds with clinical signs of disease or as part of breeding management. Genetic testing in veterinary medicine is not regulated, and therefore, any new genetic test offered in horses should be carefully evaluated and confirmed to be a valid test before use.</p>","PeriodicalId":49382,"journal":{"name":"Veterinary Clinics of North America-Equine Practice","volume":" ","pages":""},"PeriodicalIF":1.1000,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Veterinary Clinics of North America-Equine Practice","FirstCategoryId":"97","ListUrlMain":"https://doi.org/10.1016/j.cveq.2024.10.002","RegionNum":3,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
In the field of equine muscle disorders, many conditions have a genetic basis. Therefore, genetic testing is an important part of the diagnostic evaluation. Validated genetic tests are currently available for 5 equine muscle disorders: hyperkalemic periodic paralysis, malignant hyperthermia, glycogen branching enzyme disease, type 1 polysaccharide storage myopathy, and myosin heavy chain myopathy. These diseases should be tested for in the appropriate breeds with clinical signs of disease or as part of breeding management. Genetic testing in veterinary medicine is not regulated, and therefore, any new genetic test offered in horses should be carefully evaluated and confirmed to be a valid test before use.
期刊介绍：
Veterinary Clinics of North America: Equine Practice presents those in the veterinary medicine field with the most current treatment of horses, updates on the latest advances, and provides a sound basis for choosing treatment options. Published 3 times a year—in April, August, and December—each issue features expert, state-of-the-art reviews on a single topic in equine practice, including gastroenterology, imaging, infectious diseases, nutrition, orthopedics, pathology, pharmacology and therapeutics, and surgery.
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