Ibi T, Suoh H, Igarashi S, Tsuji S, Sahashi K
Fourth Department of Medicine, Aichi Medical University.
Rinsho Shinkeigaku. 1992 Sep;32(9):1038-40.
We reported a 49-year-old mother and her 28-year-old son with autosomal dominantly inherited bulbar spinal muscular atrophy (AD-BSMA). They showed progressive bulbar paresis, muscle wasting and weakness dominant in the proximal groups of limb muscles, and finger tremor. Onset of illness was in adult life. In laboratory examinations, elevated creatine kinase in serum and neurogenic changes either in EMG or muscle biopsy were noted. The son had neither gynecomastia nor abnormal sexual hormone levels which were observed in the sex-linked recessive bulbar spinal muscular atrophy (SR-BSMA). Elongation due to the CAG repeats at the androgen receptor gene of the X chromosome in SR-BSMA was not detected. In conclusion, it is clear that AD-BSMA is different from SR-BSMA on the basis of clinical and genetical aspects.
我们报告了一位49岁的母亲及其28岁的儿子，他们患有常染色体显性遗传的延髓性脊髓性肌萎缩症（AD - BSMA）。他们表现出进行性延髓麻痹、肌肉萎缩以及以近端肢体肌肉群为主的肌无力，还有手指震颤。发病于成年期。实验室检查发现血清肌酸激酶升高，肌电图或肌肉活检显示有神经源性改变。该儿子既没有男性乳房发育，性激素水平也无异常，而这些在X连锁隐性延髓性脊髓性肌萎缩症（SR - BSMA）中是会出现的。未检测到SR - BSMA中X染色体雄激素受体基因的CAG重复序列延长。总之，从临床和遗传学方面来看，AD - BSMA显然与SR - BSMA不同。
