Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, the Netherlands.
Mov Disord. 2013 Sep;28(10):1439-42. doi: 10.1002/mds.25515. Epub 2013 Jun 25.
Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS.
Four patients with GLUT1DS ages 15 to 30 years who had movement disorders as the most prominent feature were prospectively evaluated after initiation of the modified Atkins diet. Movement disorders included dystonia, ataxia, myoclonus, and spasticity, either continuous or paroxysmal, triggered by action or exercise. Duration of treatment ranged from 3 months to 16 months.
All patients reached mild to moderate ketosis and experienced remarkable improvement in the frequency and severity of paroxysmal movement disorders. Cognitive function also improved subjectively.
The modified Atkins diet is an effective and feasible alternative to the ketogenic diet for the treatment of GLUT1DS-related paroxysmal movement disorders in adolescence and adulthood.
运动障碍是葡萄糖转运蛋白 1(GLUT1)缺乏症(GLUT1DS)的一个突出特征。首选治疗方法是生酮饮食,但依从性较差。我们研究了改良阿特金斯饮食作为 GLUT1DS 运动障碍替代治疗的效果。
4 名年龄在 15 至 30 岁之间的 GLUT1DS 患者,运动障碍是最突出的特征,在开始改良阿特金斯饮食后进行前瞻性评估。运动障碍包括由动作或运动引发的持续性或阵发性的肌张力障碍、共济失调、肌阵挛和痉挛。治疗时间从 3 个月到 16 个月不等。
所有患者均达到轻度至中度酮症状态,阵发性运动障碍的发作频率和严重程度显著改善。认知功能也得到了主观改善。
改良阿特金斯饮食是治疗青少年和成年 GLUT1DS 相关阵发性运动障碍的一种有效且可行的生酮饮食替代方法。