GMPPB mutations cause congenital myasthenic syndromes (CMS) overlapping with muscular dystrophy. Treatment with pyridostigmine has been reported to be effective in those patients. Nevertheless, results of functional motor assessments to determine its precise impact on the short and long term were not available. We describe the response to treatment with pyridostigmine in three siblings with GMPPB-related CMS using functional motor scales performed regularly over a period of 40 months. The beneficial effect of the treatment was outstanding within the first hours, with all the scales showing a dramatic increase in only two days. This remarkable improvement remained steady during 12 months but a moderate decrease was subsequently detected in two of the three patients. Despite this decline in the scores of the scales at the end of follow up, the functional motor status of the patients was still significantly better than it was before starting treatment. The introduction of pyridostigmine at an early age of the disease in one of the patients, before the onset of scoliosis, may have had a protective effect on it.

中文翻译：

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吡啶斯的明治疗 GMPPB 相关 CMS 患者的早期和长期影响

GMPPB 突变导致先天性肌无力综合征 (CMS) 与肌营养不良症重叠。据报道，吡啶斯的明治疗对这些患者有效。然而，无法确定其对短期和长期的确切影响的功能性运动评估结果。我们使用在 40 个月内定期进行的功能性运动量表描述了 GMPPB 相关 CMS 的三个兄弟姐妹对吡啶斯的明治疗的反应。治疗的有益效果在最初的几个小时内就非常突出，所有的量表都在短短两天内显着增加。这种显着改善在 12 个月内保持稳定，但随后在三名患者中的两名中检测到适度下降。尽管在随访结束时量表的分数有所下降，患者的功能运动状态仍明显好于开始治疗前。在脊柱侧弯发作之前，在其中一名患者疾病早期引入吡啶斯的明可能对其产生保护作用。