以咀嚼肌无力为首发和主要症状的肯尼迪病1例
Masticatory muscle weakness as the main manifestation in a patient with Kennedy's disease:a case report
鲁明 1南丁 2安红 1胡文立1
作者信息
- 1. 首都医科大学附属北京朝阳医院神经内科,北京 100020
- 2. 首都医科大学附属北京朝阳医院高压氧科,北京 100020
- 折叠
摘要
肯尼迪病多以肢体无力特别是下肢无力、萎缩起病,同时伴有舌肌萎缩.文中报道1例以咀嚼肌无力、萎缩为首发和主要症状的肯尼迪病患者.患者为中年男性,咀嚼无力7年,且进行性加重,咀嚼或说话时需要用手托住下颌.病情发展过程中始终无明显肢体无力.体格检查:四肢肌力V级,仅有轻度舌肌萎缩,但咀嚼肌严重萎缩无力.经基因检测,患者最终被确诊为肯尼迪病.以咀嚼肌无力、萎缩为主要临床表型的肯尼迪病较为罕见,本例患者有助于加强临床医生对这一少见临床表型的认识.
Abstract
Kennedy's disease usually begins with limbs weakness,especially lower limbs weakness and atrophy,accompanied by tongue atrophy.A case of Kennedy's disease with masticatory muscle weakness and atrophy as the first and main symptoms was reported.The patient was a middle-aged male who had been weak chewing for 7 years with progressive deterioration and needed to hold his jaw with his hand while chewing or speaking.There was no significant limbs weakness throughout the course.Physical examination showed strength of limbs grade V,only mild tongue atrophy,but serious masticatory muscle atrophy and weak chowing.He was finally definitely diagnosed with Kennedy's disease by genetic testing.Masticatory muscle atrophy and weak chowing as the main phenotype is rare in Kennedy's disease.This case will help clinicians to strengthen the understanding of this rare clinical phenotype of Kennedy's disease.
关键词
肯尼迪病/咀嚼肌/咀嚼无力Key words
Kennedy disease/Masticatory muscles/Weak chewing引用本文复制引用
出版年
2024
NETL
NSTL
万方数据