作者：何龙浩，程敏，刘梦，侯心怡，邸伟，吕桦

单位：

1.西安医学院2.陕西省人民医院神经内科

Units：

Xi’an Medical College;Department of Neurology, Shaanxi People’s Hospital;

关键词：

肌萎缩,脊髓性; 脊髓延髓肌萎缩症; 肯尼迪病; 上肢; 病例报告;

Keywords：

Muscular atrophy,spinal;Spinal bulbar muscular atrophy;Kennedy’s disease;Upper limb;Case reports;

CLC：

DOI：

10.12114/j.issn.1008-5971.2022.00.228

Funds：

陕西省自然科学基金面上项目（2022JM-533）；

摘要：

脊髓延髓肌萎缩症（SBMA）又称肯尼迪病，本病患者大多为成年男性，临床表现以下运动神经元损伤为主，有肌无力、肌萎缩、肌束震颤、延髓麻痹等症状，也可伴有雄性激素不敏感综合征及感觉神经受累等表现。本文报道1例主因“右上肢无力、肌萎缩7个月”收治住院的SBMA患者，对该病的临床表现、致病基因、辅助检查、诊断、治疗、预后等进行分析并复习相关文献，以提高临床医师对该病进行早期诊断及鉴别诊断的能力。

Abstract：

Spinal bulbar muscular atrophy（SBMA） is also known as Kennedy’s disease, most of the patients are adult males, the main clinical manifestations are lower motor neuron damage, including muscle weakness, muscular atrophy, muscle bundle tremor, bulbar paralysis and other symptoms, it can also be accompanied by androgen insensitivity syndrome and sensory nerve involvement and other manifestations. This paper reports a case of SBMA with the main cause of "right upper extremity weakness and muscle atrophy for 7 months". The clinical manifestations, pathogenic genes, auxiliary examination, diagnosis, treatment and prognosis of SBMA are discussed and the literature is reviewed, so as to improve clinician’s ability of early diagnosis and differential diagnosis of SBMA.

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