We determined the prevalence of genetically determined neuromuscular diseases in adult Norwegian patients from Hordaland County. We identified patients using International Classification of Disease codes registered in our hospital database and reviewed patient notes to ensure diagnostic accuracy. To ensure maximal ascertainment, we screened both inpatient and outpatient contacts from two 5-year periods 01.01.2005 to 31.12.2009 and 01.01.2008 to 01.01.2013, and used the second data set to define prevalence. Myotonic dystrophy was the commonest adult muscle disorder with a minimum prevalence of 11.84/100,000 followed by facioscapulohumeral muscular dystrophy at 6.42/100,000. Genetically confirmed limb-girdle muscular dystrophies had a prevalence of 4.2/100,000 with CAPN3 mutations being the commonest followed by mutations in ANO5 and FKRP. Becker muscular dystrophy was rare (0.4/100,000). For the purposes of comparison, we also ascertained adults with spinal muscular atrophy (SMA) and found a prevalence of 4.42/100,000. The impact of neuromuscular disease is enormous both for the patient and for society. Progressive weakness and increasing dependency together with pulmonary and cardiac complications require specialised, multidisciplinary follow up. The provision of such care places substantial demands on health service resources. Thus, precise understanding of both type of neuromuscular disease and numbers of patients is essential in order to manage individuals appropriately and plan future health service needs.

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一项基于医院的挪威西南部基因决定肌肉疾病的流行病学研究

我们确定了来自霍达兰县的成年挪威患者中基因决定的神经肌肉疾病的患病率。我们使用在我们医院数据库中注册的国际疾病分类代码识别患者，并审查了患者记录以确保诊断准确性。为确保最大限度地确定，我们筛选了 01.01.2005 至 31.12.2009 和 01.01.2008 至 01.01.2013 的两个 5 年期间的住院和门诊接触者，并使用第二个数据集来定义患病率。强直性肌营养不良症是最常见的成人肌肉疾病，最低患病率为 11.84/100,000，其次是面肩肱型肌营养不良症，患病率为 6.42/100,000。经基因证实的肢带型肌营养不良症的患病率为 4.2/100,000，其中 CAPN3 突变最常见，其次是 ANO5 和 FKRP 突变。Becker 肌营养不良症非常罕见（0.4/100,000）。为了进行比较，我们还确定了患有脊髓性肌萎缩症 (SMA) 的成年人，发现患病率为 4.42/100,000。神经肌肉疾病对患者和社会的影响都是巨大的。进行性虚弱和依赖性增加以及肺部和心脏并发症需要专门的多学科随访。提供此类护理对卫生服务资源提出了很高的要求。因此，准确了解神经肌肉疾病的类型和患者数量对于适当管理个人和规划未来的卫生服务需求至关重要。神经肌肉疾病对患者和社会的影响都是巨大的。进行性虚弱和依赖性增加以及肺部和心脏并发症需要专门的多学科随访。提供此类护理对卫生服务资源提出了很高的要求。因此，准确了解神经肌肉疾病的类型和患者数量对于适当管理个人和规划未来的卫生服务需求至关重要。神经肌肉疾病对患者和社会的影响都是巨大的。进行性虚弱和依赖性增加以及肺部和心脏并发症需要专门的多学科随访。提供此类护理对卫生服务资源提出了很高的要求。因此，准确了解神经肌肉疾病的类型和患者数量对于适当管理个人和规划未来的卫生服务需求至关重要。