METHODS: We describe a patient with chronic proximal myopathy, subtle clinical myotonia and electrical myotonia on electromyography (EMG). Serum laboratory analysis disclosure hyperCKemia (CK 1280 mg/dL). A blood smear analysis showed Jordan\'s anomaly, a hallmark of NLSD-M. A genetic panel was collected using next-generation sequencing (NGS) technique, which identified two pathogenic variants on genes supporting two different diagnosis: NLSD-M and Thomsen congenital myotonia, whose association has not been previously described.
CONCLUSIONS: Although uncommon, it is important to remember the possibility of association of pathogenic variants to explain a specific neuromuscular disease phenotype. The use of a range of complementary methods, including myopathy genetic panels, may be essential to diagnostic definition in such cases.
方法:我们描述了一名患有慢性近端肌病的患者,在肌电图(EMG)上细微的临床肌强直和电肌强直。血清实验室分析显示高CK血症(CK1280mg/dL)。血液涂片分析显示Jordan异常,NLSD-M的标志使用下一代测序(NGS)技术收集了一个遗传小组,在支持两种不同诊断的基因上确定了两种致病变异:NLSD-M和Thomsen先天性肌强直,以前没有描述过其关联。
结论:虽然不常见,重要的是要记住致病变异的关联的可能性,以解释特定的神经肌肉疾病表型。使用一系列互补的方法,包括肌病遗传小组,在这种情况下,可能对诊断定义至关重要。