平山病临床相关研究的进展  

Progress in clinical related research of Hirayama disease

作　　者：冯小宁[1] 叶霞 马迅[1] 孙宇[2] Feng Xiaoning;Ye Xia;Ma Xun;Sun Yu(Department of Orthopaedics,Shanxi Diyi Hospital,Shanxi Medical University,Taiyuan 030032,China;Department of Orthopaedics,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]山西医科大学山西大医院骨科,太原030032 [2]北京大学第三医院骨科,100191

出　　处：《中华骨科杂志》2019年第8期518-524,共7页Chinese Journal of Orthopaedics

摘　　要：平山病(Hirayama disease,HD)又称青少年上肢远端良性肌萎缩症,典型临床特点为隐匿起病,以青少年男性多发,多数病例以一侧或双侧不对称的上肢远端肌无力和肌肉萎缩,无客观感觉异常,疾病进展数年后多自然静止。平山病发病早期的临床表现与肌萎缩侧索硬化症等运动神经元疾病相似,且因医学诊断技术的限制及临床医生认识的不足导致平山病误诊率和误治率较高,因此,对平山病及时、准确的诊断至关重要。近年来,国内外学者在平山病的诊疗方面,主要通过临床表现结合颈椎影像学检查和神经电生理技术进行诊断及相关研究。随着平山病越来越受到临床医生的高度重视,相关的病例报告及研究也逐渐增多。随着影像学和神经电生理技术的拓展应用和研究深入,目前对该病的早期诊断及早期治疗方面的重要性和有效性再次得到肯定及强调,并且在发病机制、临床诊断和治疗方面均有了新的认识,尤其对于青少年上肢远端肌肉萎缩的疑似患者,更应该警惕平山病的可能。其发病机制、临床诊断和治疗方面新的认识和研究进展对临床医生进一步认识和了解平山病至关重要。Hirayama disease(HD),also known as juvenile muscular atrophy of the distal upper extremity,is featured by concealed onset clinically and often occurs in male adolescence.In most cases,one or both of the asymmetrical distal muscles of the upper extremities are weak and atrophied without objective sensory abnormalities and this disease naturally stops developing after several years.Early Hirayama disease is similar to motor neuron diseases in clinical symptoms like amyotrophic lateral sclerosis.The limitation of medical diagnostic techniques and the lack of understanding by clinicians lead to a higher rate of misdiagnosis of Hirayama disease,making their treatment plan and prognosis completely different.Therefore,a timely and accurate diagnosis of Hirayama disease is essential.In recent years,domestic and foreign scholars conducted researches in the diagnosis of Hirayama disease mainly through clinical manifestation combined with the magnetic resonance imaging of the cervical flexion position and the application of various neurophysiological detection techniques.As the number of clinical cases gradually increases,Hirayama disease draws more attention of clinicians and there are more and more reports and researches on related cases.With the development of research and application of imaging and neuroelectrophysiological techniques,the importance and effectiveness of early diagnosis and treatment of the disease have been affirmed and emphasized,thus people acquire a better understanding of its pathogenesis,clinical diagnosis and treatment.Especially for those suspected patients with juvenile muscular atrophy of the distal upper extremity,it is more important to be vigilant against the possibility of Hirayama disease.Based on this reality,this paper will discuss the new understanding and research progress of pathogenesis,clinical diagnosis and treatment of Hirayama disease,which is very important for clinicians to better understand and pay more attention to this disease.

关 键 词：平山病 临床特点 神经电生理技术 肌萎缩侧索硬化症 运动神经元疾病 影像学检查 临床医生 诊断技术 

分 类 号：R746.4[医药卫生—神经病学与精神病学]