Liang Wen-Chen, Wang Chen-Hua, Chou Po-Ching, Chen Wan-Zi, Jong Yuh-Jyh
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Pediatrics, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
Pediatr Neonatol. 2018 Apr;59(2):176-183. doi: 10.1016/j.pedneo.2017.02.004. Epub 2017 Aug 25.
Duchenne muscular dystrophy (DMD) is the most common hereditary muscular dystrophy and caused by DMD gene mutation. In addition to progressive proximal muscle weakness, respiratory, orthopedic, and gastrointestinal complications are often observed in DMD. The natural history of patients with DMD in Taiwan has not been reported thus far.
Medical records of 39 patients who received a diagnosis of DMD between 1999 and 2016 at Kaohsiung Medical University Hospital were reviewed. The diagnosis of DMD was confirmed through muscle biopsy or DMD genetic analysis.
The mean onset age and mean follow-up period were 2.75 years and 6.76 years, respectively. Seventeen patients (43.5%) had a family history of DMD. The mean full intelligence quotient of the patients was 71.08, and the mean age of walking ability loss was 9.7 years (25 patients). The mean onset age of respiratory insufficiency was 10.64 years with a decline rate of 5.18% per year (25 patients). The mean onset age of cardiomyopathy was 14.69 years (seven patients). The mean onset age of scoliosis was 13.29 years with a progression rate of 11.48° per year (14 patients). Eleven (28.2%) and eight (20.5%) patients had deletions and duplications of DMD, respectively. Fourteen patients (35.9%) had point mutations or small deletions or insertions. Five patients received only multiplex ligation-dependent probe amplification (MLPA) analysis and exhibited neither deletion nor duplication. No mutation was identified in one patient through both MLPA and exon sequencing.
The clinical phenotypes and disease course in our cohort were consistent with that reported in previous studies. However, the proportion of point mutations or small deletions or insertions in our study was considerably higher than that in reports from other populations. Cardiac ejection fraction was found not a reliable biomarker for identifying cardiac problems, discovering a better parameter is necessary.
杜兴氏肌营养不良症（DMD）是最常见的遗传性肌营养不良症，由DMD基因突变引起。除进行性近端肌无力外，DMD患者还常出现呼吸、骨科和胃肠道并发症。台湾DMD患者的自然病史迄今尚未见报道。
回顾了1999年至2016年在高雄医学大学医院被诊断为DMD的39例患者的病历。DMD的诊断通过肌肉活检或DMD基因分析得以证实。
平均发病年龄和平均随访时间分别为2.75岁和6.76年。17例患者（43.5%）有DMD家族史。患者的平均全智商为71.08，丧失行走能力的平均年龄为9.7岁（25例患者）。呼吸功能不全的平均发病年龄为10.64岁，每年下降率为5.18%（25例患者）。心肌病的平均发病年龄为14.69岁（7例患者）。脊柱侧弯的平均发病年龄为13.29岁，每年进展率为11.48°（14例患者）。分别有11例（28.2%）和8例（20.5%）患者存在DMD基因缺失和重复。14例患者（35.9%）有基因突变或小的缺失或插入。5例患者仅接受了多重连接依赖探针扩增（MLPA）分析，未发现缺失或重复。1例患者通过MLPA和外显子测序均未发现突变。
我们队列中的临床表型和病程与先前研究报道一致。然而，我们研究中基因突变或小的缺失或插入的比例明显高于其他人群的报道。发现心脏射血分数不是识别心脏问题的可靠生物标志物，因此有必要寻找更好的参数。
