A clinical case of CACNA1S-related muscle weakness in a Holstein calf with congenital astasia diagnosed by a genotyping test of stored blood.

IF 1.1 4区 农林科学 Q3 VETERINARY SCIENCES Journal of Veterinary Medical Science Pub Date : 2024-11-18 DOI:10.1292/jvms.24-0308
Hisashi Inokuma, Masaki Maezawa, Yoshiyuki Miyazaki, Atsushi Ogino, Ken-Ichi Watanabe, Yoshiyasu Kobayashi
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Abstract

A homozygous calf with CACNA1S-related muscle weakness, a new autosomal recessive congenital disorder in Holstein cattle, was identified by genotyping 195 stored blood samples from Holstein calves aged less than 12 months. The patient was an 8-day-old male calf with congenital astasia which presented to a university hospital in 2019. The patient was unable to maintain an upright position with assistance to stand. Congenital abnormalities in the central nervous system were suspected, but necropsy revealed no specific lesion, with no clear diagnosis. CACNA1S-related muscle weakness should be considered a cause of congenital astasia or weakness in calves. Genotyping is required for a definitive diagnosis because clinical and laboratory findings are non-specific.

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通过对储存的血液进行基因分型检测,诊断出一例患有先天性哮喘的荷斯坦小牛肌无力与 CACNA1S 有关的临床病例。
通过对195份储存的年龄小于12个月的荷斯坦犊牛血液样本进行基因分型,发现了一头患有CACNA1S相关肌无力的同基因犊牛,这是荷斯坦牛的一种新的常染色体隐性先天性疾病。患者是一头8天大的雄性小牛,患有先天性哮喘,于2019年到一所大学医院就诊。患者无法在辅助下保持直立姿势。怀疑中枢神经系统存在先天性异常,但尸检未发现具体病变,诊断不明确。与 CACNA1S 相关的肌无力应被视为小牛先天性气喘或肌无力的病因之一。由于临床和实验室检查结果无特异性,因此需要进行基因分型才能明确诊断。
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来源期刊
Journal of Veterinary Medical Science
Journal of Veterinary Medical Science 农林科学-兽医学
CiteScore
2.30
自引率
8.30%
发文量
230
审稿时长
9-18 weeks
期刊介绍: JVMS is a peer-reviewed journal and publishes a variety of papers on veterinary science from basic research to applied science and clinical research. JVMS is published monthly and consists of twelve issues per year. Papers are from the areas of anatomy, physiology, pharmacology, toxicology, pathology, immunology, microbiology, virology, parasitology, internal medicine, surgery, clinical pathology, theriogenology, avian disease, public health, ethology, and laboratory animal science. Although JVMS has played a role in publishing the scientific achievements of Japanese researchers and clinicians for many years, it now also accepts papers submitted from all over the world.
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