Gambino Anya N, Mouser Pamela J, Shelton G Diane, Winand Nena J
Department Emergency and Critical Care, Angell Animal Medical Center, Boston, MA; Department of Pathology, University of California, San Diego, La Jolla, CA.
J Am Anim Hosp Assoc. 2014 Mar-Apr;50(2):130-5. doi: 10.5326/JAAHA-MS-5973. Epub 2014 Jan 20.
This report describes a case of feline dystrophin-deficient muscular dystrophy (DDMD) with an atypical clinical presentation. A novel gene mutation is reported to be responsible for dystrophin-deficient hypertrophic muscular dystrophy. In an emergency setting, clinicians should be aware of muscular dystrophy in young cats and the importance of elevated creatine kinase (CK) activity. Muscular dystrophy is rare but can present both a diagnostic and therapeutic challenge in an emergency setting. Patients with muscular dystrophy have a progressive disease with no specific treatment and have an increased risk for death during their hospital stay.
本报告描述了一例具有非典型临床表现的猫科动物肌营养不良蛋白缺乏性肌营养不良(DDMD)病例。据报道,一种新的基因突变导致了肌营养不良蛋白缺乏性肥厚性肌营养不良。在紧急情况下,临床医生应意识到幼猫中的肌营养不良以及肌酸激酶(CK)活性升高的重要性。肌营养不良很罕见,但在紧急情况下可能带来诊断和治疗挑战。患有肌营养不良的患者病情呈进行性发展,没有特效治疗方法,且在住院期间死亡风险增加。