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

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。

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 gradeⅤ,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.