Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Brain. 2009 Nov;132(Pt 11):3175-86. doi: 10.1093/brain/awp236. Epub 2009 Sep 18.
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 Walton and Nattrass (1954) 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.
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。我们目前的诊所患者群体包括 1100 多名患者，我们已经对其中的 31 种不同的肌肉疾病实体进行了分子特征分析。通过仔细描绘临床特征，并辅以组织学、免疫学和遗传学分析，明确了诊断，使我们能够在 75.7%的患者中做出明确诊断。我们将我们的病例特征与 Walton 和 Nattrass 1954 年的开创性研究以及来自世界各地的其他更新研究进行了比较。五个主要疾病类别的现患率数据与其他最近的研究相似。肌强直性营养不良症最为常见，占我们诊所患者群体的 28.6%，现患率为 10.6/100,000。其次是肌营养不良症和面肩肱型肌营养不良症，分别占诊所患者群体的 22.9%（8.46/100,000）和 10.7%（3.95/100,000）。脊髓性肌萎缩症患者占 5.1%或 1.87/100,000 名患者。 Walton 和 Nattrass（1954 年）首次描述的肢带型肌营养不良症在该论文中占诊所患者群体的 17%，占我们诊所患者群体的 6.2%，总现患率为 2.27/100,000。诊所患者群体还包括其他 12 种肌肉疾病患者。这些疾病的现患率范围从先天性肌营养不良症群体的 0.89/100,000 到 300 万人群中仅有 2 例患者的疾病。我们的研究首次提供了 X 连锁性 Emery-Dreifuss 肌营养不良症和胶原 VI 疾病的流行病学信息。X 连锁性 Emery-Dreifuss 肌营养不良症和 Ullrich 肌营养不良症的每种形式的现患率均为 0.13/100,000，均非常罕见。Bethlem 肌病相对更常见，现患率为 0.77/100,000。总的来说，我们的研究为英格兰北部地区罕见的遗传性神经肌肉疾病提供了全面的流行病学信息。尽管故意排除了相对常见的群体，如遗传性运动感觉神经病（40/100,000）和线粒体疾病（9.2/100,000），但总现患率为 37.0/100,000，这表明这些疾病作为一个整体，涵盖了相当一部分慢性疾病患者。该研究还说明了自 50 多年前 Walton 和 Nattrass 进行第一次区域调查以来，在诊断方面取得了巨大进展。
