Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
Neuromuscul Disord. 2013 Feb;23(2):170-5. doi: 10.1016/j.nmd.2012.11.004. Epub 2012 Dec 5.
Congenital myasthenic syndromes due to DOK7 mutations cause fatigable limb girdle weakness. Treatment with ephedrine improves muscle strength. Salbutamol, a β(2)-adrenergic receptor agonist with fewer side effects and more readily available, has been effective in adult and anecdotal childhood cases. This study reports the effects of salbutamol on motor function in childhood DOK7 congenital myasthenic syndrome. Nine children (age range 5.9-15.1years) were treated with oral salbutamol, 2-4mg TDS. The effect on timed tests of motor function, pre- and up to 28months post-treatment, was audited retrospectively. All 9 reported functional benefit within 1month, with progressive improvement to a plateau at 12-18months. Within the first month, all 3 non-ambulant children resumed walking with assistance. Although improvements were seen in some timed tests (timed 10m, arm raise time, 6min walk time) this did not fully reflect the observed functional benefits in daily living activities. No major side effects were reported. We conclude that oral salbutamol treatment significantly improves strength in children with DOK7 congenital myasthenic syndrome and is well tolerated. Outcome measures need to be refined further, both to accurately reflect functional abilities in children and to document progress and treatment response.
因 DOK7 突变导致的先天性肌无力综合征会引起易疲劳的肢体带肌无力。使用麻黄碱治疗可以改善肌肉力量。沙丁胺醇是一种β(2)-肾上腺素能受体激动剂，副作用较少，更容易获得，在成人和儿童病例中均有效。本研究报告了沙丁胺醇对儿童 DOK7 先天性肌无力综合征运动功能的影响。9 名儿童（年龄 5.9-15.1 岁）接受了沙丁胺醇口服治疗，2-4mg TDS。回顾性审核了治疗前和治疗后最多 28 个月时的运动功能计时测试的效果。9 名儿童均在 1 个月内报告了功能改善，12-18 个月时逐渐达到平台期。在第一个月内，所有 3 名不能行走的儿童在辅助下恢复行走。尽管一些计时测试（10m 计时、手臂抬起时间、6min 步行时间）有所改善，但这并没有完全反映日常生活活动中的观察到的功能改善。未报告主要副作用。我们得出结论，口服沙丁胺醇治疗可显著改善 DOK7 先天性肌无力综合征儿童的肌力，且耐受性良好。需要进一步完善疗效评估措施，以准确反映儿童的功能能力，并记录进展和治疗反应。
