Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Sant Joan de Déu and CIBERER U703, Barcelona, Spain.
Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Hospital Sant Joan de Déu and CIBERER U703, Barcelona, Spain.
Neuromuscul Disord. 2020 Sep;30(9):719-726. doi: 10.1016/j.nmd.2020.07.009. Epub 2020 Jul 24.
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.
GMPPB 突变导致先天性肌无力综合征（CMS）与肌肉疾病重叠。据报道，吡啶斯的明治疗对这些患者有效。然而，关于其对短期和长期的精确影响的功能运动评估结果尚不可用。我们使用定期进行的功能运动量表，描述了 3 名 GMPPB 相关 CMS 患者接受吡啶斯的明治疗的反应，随访时间为 40 个月。在最初的几个小时内，治疗的效果非常显著，所有的量表在两天内都显示出明显的增加。这种显著的改善在 12 个月内保持稳定，但随后在 3 名患者中的 2 名中检测到了中度下降。尽管在随访结束时量表的评分有所下降，但患者的功能运动状况仍明显优于治疗前。其中一名患者在疾病早期（脊柱侧凸之前）引入吡啶斯的明，可能对其有保护作用。
