Andreassen Christer Swan, Schlütter Jacob Mørup, Vissing John, Andersen Henning
Clinical Neurology Research Group, Department of Neurology, Aarhus University Hospital, Nørrebrogade 44, 8000 Aarhus C., Denmark; Institute of Clinical Medicine, Aarhus University, Brendstrupgårdsvej 100, 8200 Aarhus N., Denmark.
Clinical Neurology Research Group, Department of Neurology, Aarhus University Hospital, Nørrebrogade 44, 8000 Aarhus C., Denmark.
Mol Genet Metab. 2014 May;112(1):40-3. doi: 10.1016/j.ymgme.2014.02.015. Epub 2014 Mar 5.
Pompe disease is a rare, inherited metabolic myopathy characterized by progressive weakness of the proximal limb and respiratory muscles. We report the findings from four patients with late-onset Pompe disease treated with α-glucosidase (Myozyme) for 2 (n=2) and 6 (n=2) years, and monitored with isokinetic dynamometry, 6-minute walking test (6MWT), and vital capacity. Patients were evaluated after 6, 12, 24, 36, 48, 60, and 72months. In two patients, muscle size estimated by MRI and DXA scanning was also performed prior to and following 6months of treatment. After 2years of α-glucosidase treatment, maximal isokinetic muscle strength increased by 11% (0%-50%) [median (range)] and 6MWT improved by 18% (2%-40%). In the two patients treated for 6years, the increase in muscle strength stabilized at 40% and 6MWT stabilized at 32%. The improvements primarily occurred during the first 6months of treatment. Interestingly, the weakest muscle groups seemed to benefit more than those less affected, and greater improvements occurred for flexor muscles compared to extensor muscles. Vital capacity did not improve on treatment.
庞贝病是一种罕见的遗传性代谢性肌病，其特征为近端肢体和呼吸肌进行性无力。我们报告了4例晚发型庞贝病患者的研究结果，这些患者接受了α-葡萄糖苷酶（美而赞）治疗，治疗时间分别为2年（n = 2）和6年（n = 2），并通过等速肌力测试、6分钟步行试验（6MWT）和肺活量进行监测。患者在6、12、24、36、48、60和72个月后接受评估。在两名患者中，还在治疗6个月之前和之后通过MRI和DXA扫描评估肌肉大小。经过2年的α-葡萄糖苷酶治疗，最大等速肌力增加了11%（0%-50%）[中位数（范围）]，6MWT提高了18%（2%-40%）。在接受6年治疗的两名患者中，肌肉力量增加稳定在40%，6MWT稳定在32%。改善主要发生在治疗的前6个月。有趣的是，最薄弱的肌肉群似乎比受影响较小的肌肉群受益更多，与伸肌相比，屈肌的改善更大。治疗后肺活量没有改善。
