CAJ | 학술논문

目的探讨少年型脊肌萎缩症(juvenile spinal muscular atrophy,SMAⅢ)的临床特征、基因型及相关实验室检查.方法收集并分析18例确诊的SMAⅢ患者的临床资料、基因型及实验室检查结果.结果患者平均起病年龄6.1岁,从出现首发症状到就诊病程为13个月到28年不等.患者均以双下肢肌无力症状起病,逐渐出现双下肢近端肌萎缩和双上肢近端无力；所有患者SMN (survival motor neuron)基因分析提示均存在SMN1基因纯合缺失.行肌电图检查15例,结果均提示神经源性损害.年龄较小患者肌酸激酶(creatine kinase,CK)值基本正常,多数年龄较大的患者CK值均不同程度升高,但增高程度与年龄无关.结论充分认识SMAⅢ的临床特点,尤其是生长发育方面的特点,结合基因分析、早期诊断并早期干预对延缓患者的病情进展具有重要意义.
목적 탐토소년형척기위축증(juvenile spinal muscular atrophy,SMAⅢ)적림상특정、기인형급상관실험실검사.방법 수집병분석18례학진적SMAⅢ환자적림상자료、기인형급실험실검사결과.결과 환자평균기병년령6.1세,종출현수발증상도취진병정위13개월도28년불등.환자균이쌍하지기무력증상기병,축점출현쌍하지근단기위축화쌍상지근단무력；소유환자SMN (survival motor neuron)기인분석제시균존재SMN1기인순합결실.행기전도검사15례,결과균제시신경원성손해.년령교소환자기산격매(creatine kinase,CK)치기본정상,다수년령교대적환자CK치균불동정도승고,단증고정도여년령무관.결론 충분인식SMAⅢ적림상특점,우기시생장발육방면적특점,결합기인분석、조기진단병조기간예대연완환자적병정진전구유중요의의.
Objective To explore the genotypic and clinical features and laboratory examinations of spinal muscular atrophy type 3 (SMA Ⅲ ).Methods Results of genetic testing and laboratory exams of 18 SMA Ⅲ patients were collected and analyzed.Results The average age of onset of patients was 6.1 years,with the course of disease lasting from 13 months to 28 years.All patients became symptomatic with lower extremity muscle weakness. The symptoms gradually aggregated, with proximal lower limb muscle becoming atrophic and proximal upper limb muscle becoming weak. Genetic testing indicated that all subjects possessed homozygous deletions ofSMN1 gene.Electromyography (EMG) of 15 subjects indicated neurogenic damage.Whilst younger patients had normal level of creatine kinase (CK),elder patients had higher level of CK,though no linear correlation was found.Conclusion Full understanding of Clinical,especially the growth features of SMA Ⅲ,in combination with genetic testing,can facilitate diagnosis and early intervention of the disease.