Rebecca Stevens, Shinichi Kanazono, Scott Petesch, Ling T Guo, G Diane Shelton
{"title":"两只雄性幼年布列塔尼的肌营养不良症。","authors":"Rebecca Stevens, Shinichi Kanazono, Scott Petesch, Ling T Guo, G Diane Shelton","doi":"10.5326/JAAHA-MS-7255","DOIUrl":null,"url":null,"abstract":"<p><p>A 6 mo old and a 7 mo old male intact Brittany were presented for progressive exercise intolerance, failure to grow, and dysphagia. Creatine kinase activity was markedly and persistently elevated in both dogs. Based on the neurological examination, clinical signs localized to the neuromuscular system. Electromyography revealed complex repetitive discharges in multiple muscle groups. Immunofluorescence of biopsies confirmed dystrophin-deficient muscular dystrophy. This is the first report describing dystrophin-deficient muscular dystrophy in the Brittany breed. Currently, no specific therapies are available for this form of myopathy. The presence of dystrophin deficiency in the two dogs suggests an inherited myopathy rather than a spontaneous mutation. The location of the dogs in the United States and Japan suggests a wide distribution of this dystrophy and should alert clinicians to the existence of this myopathy in the Brittany breed. A mutation in the DMD gene has not yet been identified.</p>","PeriodicalId":17185,"journal":{"name":"Journal of the American Animal Hospital Association","volume":"58 6","pages":"292-296"},"PeriodicalIF":1.5000,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Dystrophin-Deficient Muscular Dystrophy in Two Male Juvenile Brittanys.\",\"authors\":\"Rebecca Stevens, Shinichi Kanazono, Scott Petesch, Ling T Guo, G Diane Shelton\",\"doi\":\"10.5326/JAAHA-MS-7255\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 6 mo old and a 7 mo old male intact Brittany were presented for progressive exercise intolerance, failure to grow, and dysphagia. Creatine kinase activity was markedly and persistently elevated in both dogs. Based on the neurological examination, clinical signs localized to the neuromuscular system. Electromyography revealed complex repetitive discharges in multiple muscle groups. Immunofluorescence of biopsies confirmed dystrophin-deficient muscular dystrophy. This is the first report describing dystrophin-deficient muscular dystrophy in the Brittany breed. Currently, no specific therapies are available for this form of myopathy. The presence of dystrophin deficiency in the two dogs suggests an inherited myopathy rather than a spontaneous mutation. The location of the dogs in the United States and Japan suggests a wide distribution of this dystrophy and should alert clinicians to the existence of this myopathy in the Brittany breed. A mutation in the DMD gene has not yet been identified.</p>\",\"PeriodicalId\":17185,\"journal\":{\"name\":\"Journal of the American Animal Hospital Association\",\"volume\":\"58 6\",\"pages\":\"292-296\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2022-11-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of the American Animal Hospital Association\",\"FirstCategoryId\":\"97\",\"ListUrlMain\":\"https://doi.org/10.5326/JAAHA-MS-7255\",\"RegionNum\":4,\"RegionCategory\":\"农林科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"VETERINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of the American Animal Hospital Association","FirstCategoryId":"97","ListUrlMain":"https://doi.org/10.5326/JAAHA-MS-7255","RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"VETERINARY SCIENCES","Score":null,"Total":0}
Dystrophin-Deficient Muscular Dystrophy in Two Male Juvenile Brittanys.
A 6 mo old and a 7 mo old male intact Brittany were presented for progressive exercise intolerance, failure to grow, and dysphagia. Creatine kinase activity was markedly and persistently elevated in both dogs. Based on the neurological examination, clinical signs localized to the neuromuscular system. Electromyography revealed complex repetitive discharges in multiple muscle groups. Immunofluorescence of biopsies confirmed dystrophin-deficient muscular dystrophy. This is the first report describing dystrophin-deficient muscular dystrophy in the Brittany breed. Currently, no specific therapies are available for this form of myopathy. The presence of dystrophin deficiency in the two dogs suggests an inherited myopathy rather than a spontaneous mutation. The location of the dogs in the United States and Japan suggests a wide distribution of this dystrophy and should alert clinicians to the existence of this myopathy in the Brittany breed. A mutation in the DMD gene has not yet been identified.
期刊介绍:
The purpose of the JAAHA is to publish relevant, original, timely scientific and technical information pertaining to the practice of small animal medicine and surgery.