肯尼迪病,也称为脊髓和延髓性肌萎缩症(SBMA),是一种罕见的,成年发病,X连锁隐性神经肌肉疾病,由编码聚谷氨酰胺(polyQ)束的雄激素受体基因(AR)外显子1中CAG重复序列的扩展引起。polyQ扩展的AR在核中积累,并引发运动神经元和背根神经节的变性和丢失。虽然这种疾病长期以来被认为是一种纯粹的下运动神经元疾病,最近,在肌肉活检中,主要的高肌酸激酶(CK)血症和肌病改变的存在提示了原发性肌病的存在,其具有广泛的临床表现.疾病,影响成年男性,其特征是四肢近端肌肉无力和萎缩,和Bulbar的参与。感觉障碍与运动表型有关,但可能是亚临床的.最常见的全身症状是与雄激素不敏感有关的男性乳房发育症,但是其他异常,如心律和泌尿系统紊乱,也有报道。该疾病的进程是缓慢进展与正常的预期寿命。SBMA的诊断是基于基因检测,38个CAG重复作为致病性。尽管在小鼠模型中进行了一些治疗尝试,目前还没有有效的疾病改善疗法,尽管对症治疗对治疗虚弱有益,疲劳和延髓症状。
Kennedy\'s disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular disease caused by expansion of a CAG repeat sequence in exon 1 of the androgen receptor gene (AR) encoding a polyglutamine (polyQ) tract. The polyQ-expanded AR accumulates in nuclei, and initiates degeneration and loss of motor neurons and dorsal root ganglia. While the disease has long been considered a pure lower motor neuron disease, recently, the presence of major hyper-creatine-kinase (CK)-emia and myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide range of clinical manifestations. The disease, which affects male adults, is characterized by muscle weakness and atrophy localized proximally in the limbs, and bulbar involvement. Sensory disturbances are associated with the motor phenotype, but may be subclinical. The most frequent systemic symptom is gynecomastia related to androgen insensitivity, but other abnormalities, such as heart rhythm and urinary disturbances, have also been reported. The course of the disease is slowly progressive with normal life expectancy. The diagnosis of SBMA is based on genetic testing, with 38 CAG repeats taken as pathogenic. Despite several therapeutic attempts made in mouse models, no effective disease-modifying therapy is yet available, although symptomatic therapy is beneficial for the management of the weakness, fatigue and bulbar symptoms.