Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population.
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DOI：
10.1093/brain/awp236
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发表时间：
2009-11
期刊：
影响因子：
--
通讯作者：
Straub V
中科院分区：
文献类型：
--
作者：
Norwood FL;Harling C;Chinnery PF;Eagle M;Bushby K;Straub V
我们对英格兰北部地区的遗传性肌肉疾病患者进行了详细的人群研究。我们目前的临床人口包括1100多名患者，我们已经对31种不同的肌肉疾病实体进行了分子表征。在组织学、免疫学和遗传学分析的支持下，通过对临床特征的仔细描述，使我们能够对75.7%的患者进行明确的诊断。我们将我们的案例资料与沃尔顿和纳特拉斯1954年的开创性研究（同样是针对北部地区的研究）以及来自世界各地的其他近期研究的数据进行了比较。五种主要疾病类别中每一种的点状流行率数据与最近其他研究的数据具有可比性。肌强直性营养不良症是最常见的，占我们诊所人口的28.6%，点患病率为10.6/10万。其次是肌营养不良症和面肩肱肌营养不良症，分别占临床人口的22.9%（8.46/10万）和10.7%（3.95/10万）。脊髓性肌萎缩患者占5.1%，为1.87/10万。肢带性肌肉萎缩症首次在论文中被描述，占其临床人群的17%，占我们临床人群的6.2%，总患病率为2.27/10万。临床人群包括患有其他12种肌肉疾病的患者。这些疾病的范围从先天性肌肉萎缩症组的点患病率为0.89/10万到300万人口中只有两名患者。我们的研究首次提供了x -连锁埃默里-德雷弗斯肌营养不良症和VI型胶原蛋白紊乱的流行病学信息。埃默里-德雷弗斯肌营养不良症和乌尔里希肌营养不良症的x连锁型患病率均为0.13/10万，这两种疾病都非常罕见。Bethlem肌病较为常见，患病率为0.77/10万。总的来说，我们的研究为英格兰北部个别罕见的遗传性神经肌肉疾病提供了全面的流行病学信息。尽管有意排除了相对常见的群体，如遗传性运动和感觉神经病变（40/10万）和线粒体疾病（9.2/10万），但总患病率为37.0/10万，表明这些疾病作为一个群体，在慢性疾病患者中占很大比例。这项研究还表明，自50多年前沃尔顿和纳特拉斯进行第一次区域调查以来，诊断方面取得了巨大进展。
We have performed a detailed population study of patients with genetic muscle disease in the northern region of England. Our current clinic population comprises over 1100 patients in whom we have molecularly characterized 31 separate muscle disease entities. Diagnostic clarity achieved through careful delineation of clinical features supported by histological, immunological and genetic analysis has allowed us to reach a definitive diagnosis in 75.7% of our patients. We have compared our case profile with that from Walton and Nattrass’ seminal study from 1954, also of the northern region, together with data from other more recent studies from around the world. Point prevalence figures for each of the five major disease categories are comparable with those from other recent studies. Myotonic dystrophies are the most common, comprising 28.6% of our clinic population with a point prevalence of 10.6/100 000. Next most frequent are the dystrophinopathies and facioscapulohumeral muscular dystrophy making up 22.9% (8.46/100 000) and 10.7% (3.95/100 000) of the clinic population, respectively. Spinal muscular atrophy patients account for 5.1% or 1.87/100 000 patients. Limb girdle muscular dystrophy, which was described for the first time in the paper by and comprised 17% of their clinic population, comprises 6.2% of our clinic population at a combined prevalence of 2.27/100 000. The clinic population included patients with 12 other muscle disorders. These disorders ranged from a point prevalence of 0.89/100 000 for the group of congenital muscular dystrophies to conditions with only two affected individuals in a population of three million. For the first time our study provides epidemiological information for X-linked Emery–Dreifuss muscular dystrophy and the collagen VI disorders. Each of the X-linked form of Emery–Dreifuss muscular dystrophy and Ullrich muscular dystrophy has a prevalence of 0.13/100 000, making both very rare. Bethlem myopathy was relatively more common with a prevalence of 0.77/100 000. Overall our study provides comprehensive epidemiological information on individually rare inherited neuromuscular conditions in Northern England. Despite the deliberate exclusion of relatively common groups such as hereditary motor and sensory neuropathy (40/100 000) and mitochondrial disorders (9.2/100 000), the combined prevalence is 37.0/100 000, demonstrating that these disorders, taken as a group, encompass a significant proportion of patients with chronic disease. The study also illustrates the immense diagnostic progress since the first regional survey over 50 years ago by Walton and Nattrass.
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