A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China

作者：Xihua Li, Lei Zhao, Shuizhen Zhou, Chaoping Hu, Yiyun Shi, Wei Shi, Hui Li, Fang Liu, Bingbing Wu, Yi-Xiang Wang · 发表于：Orphanet Journal of Rare Diseases · 年份：2015 · DOI：10.1186/s13023-014-0220-7 · 被引用次数：51 · 研究领域：Muscle Physiology and Disorders、Adipose Tissue and Metabolism、Nuclear Structure and Function

BACKGROUND: Currently, there is no cure for Duchenne and Becker muscular dystrophies (DMD/BMD). However, clinical trials with new therapeutic strategies are being conducted or considered. A comprehensive database is critical for patient recruitment and efficacy evaluation. China has the largest population, yet, no comprehensive database for DMD/BMD is available. Our study registered the data of the DMD/BMD patients in East China. METHODS: A modified registry form of Remudy ( http://www.remudy.jp/ ) was applied to Chinese DMD/BMD patients through the outpatient clinic at Children's Hospital of Fudan University, Shanghai during the period of August 2011 to December 2013. The data included geographic distribution of patients, age at diagnosis, clinical manifestation, genetic analysis and treatment status. RESULTS: 194 DMD and 35 BMD patients were registered. Most patients lived in East China, namely Jiangsu province, Anhui province, Zhejiang province, Jiangxi province, Shanghai, Fujian province and Shandong province. All individuals aged less than 18 years (age limit to a children's hospital). Diagnosis was made for a majority of patients during the age of 3-4 (16.6%) and 7-8 (14.8%) years old. Exon deletion was the most frequent genetic mutations (65.5% and 74.3%) followed by point mutations (14.4% and 11.4%), duplications (9.8% and 8.6%) and small insertion/deletion (9.3% and 2.9%) for DMD and BMD, respectively. 82.5% of DMD registrants were ambulatory, and all the BMD registr...