Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genoa, Italy.
Neuromuscul Disord. 2013 Nov;23(11):902-6. doi: 10.1016/j.nmd.2013.07.002. Epub 2013 Jul 23.
Charcot-Marie-Tooth type 1A (CMT1A) is the most common inherited neuropathy. The phenotype of patients affected by CMT1A is highly variable and may be influenced by several conditions. We evaluated how comorbidities such as diabetes, hypothyroidism, exposure to toxins and obesity can modify or exacerbate the clinical and neurophysiological phenotype of CMT1A patients. Disability was measured using the classic CMT neuropathy score. Compared to controls, all groups of CMT1A patients with comorbidities had higher CMT neuropathy score. In particular, patients with CMT1A and diabetes mellitus show motor subscores which are significantly higher than in control CMT1A. Amplitudes of ulnar CMAP are lower in patients with CMT1A and diabetes mellitus, but not at a significant level. As expected, motor nerve conduction velocity is not influenced by any of the comorbidities. The presence of concomitant diseases shows a tendency to worsen the clinical and neurophysiological CMT1A phenotype, especially in patients with CMT1A and diabetes mellitus, where higher values in the CMT neuropathy score and clinical motor subscore have been observed.
腓骨肌萎缩症 1A 型（CMT1A）是最常见的遗传性周围神经病。CMT1A 患者的表型高度可变，可能受多种因素影响。我们评估了糖尿病、甲状腺功能减退症、接触毒素和肥胖等合并症如何改变或加剧 CMT1A 患者的临床和神经生理学表型。残疾通过经典的 CMT 神经病评分进行测量。与对照组相比，所有伴有合并症的 CMT1A 患者组的 CMT 神经病评分均较高。特别是患有 CMT1A 和糖尿病的患者，其运动子评分明显高于对照组的 CMT1A。CMT1A 合并糖尿病患者的尺神经 CMAP 幅度较低，但无统计学意义。正如预期的那样，运动神经传导速度不受任何合并症的影响。合并症的存在显示出对 CMT1A 表型的临床和神经生理学恶化的趋势，特别是在 CMT1A 合并糖尿病的患者中，观察到 CMT 神经病评分和临床运动子评分更高。
