1型腓骨肌萎缩症的康复

M. Mannil, Chandini Kadian, Elisabeth Futterlieb, M. Sereda
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引用次数: 1

摘要

腓骨肌萎缩症是最常见的遗传性周围神经病变,患病率约为1 / 2,500[1]。最常见的亚型是常染色体显性1A型,这是由染色体17p11.2上的染色体内重复引起的[2,3]。髓鞘的连续原发性丧失导致继发性轴突变性。特征性临床表现包括远端明显的肌肉萎缩、继发性骨骼畸形、感觉丧失和深肌腱反射减少[4,5]。个体临床表型各不相同,即使在同卵双胞胎中也是如此[6]。其范围从亚临床表现到罕见的轮椅患者。总体而言,生活质量明显受损[7]。尽管正在进行研究,但目前尚无根治性治疗方法[8]。最近发表的一项抗坏血酸试验显示,抗坏血酸对CMT1A患者的临床表型没有显著影响[9,32,36]。然而,物理治疗和适度运动被证明是积极的疾病改善。虽然治愈超出了物理治疗的范围,但它可以防止临床表型的迅速恶化[10,11,17]。最近的研究表明,CMT患者从康复计划中获得了身体和精神上的好处,但他们也认为所进行的锻炼并不是专门为他们的需求设计的[11]。事实上,很少有基于证据的数据,也没有关于腓骨肌萎缩症患者康复的共同共识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rehabilitation in Charcot-Marie-Tooth disease type 1
Charcot-Marie-Tooth disease is the most common inherited peripheral neuropathy with a prevalence of approximately 1 in 2,500 [1]. The most common subtype is the autosomal dominant type 1A, which is caused by an intrachromosomal duplication on chromosome 17p11.2 [2,3]. A consecutive primary loss of the myelin sheath leads to secondary axonal degeneration. Characteristic clinical findings include distally pronounced muscle wasting, secondary skeletal deformities, sensory loss, and reduced deep tendon reflexes [4,5]. The individual clinical phenotypes vary, even among monozygotic twins [6]. They range from sub-clinical manifestations to rare cases of wheelchair-bound patients. Overall, the quality of life is significantly impaired [7]. Despite ongoing research, no curative treatments are currently available [8]. A recently published ascorbic acid trial showed no significant effect on the clinical phenotype of CMT1A patients [9,32,36]. Nevertheless, physical therapy and moderate exercises are proven to be positively disease-modifying. While a cure lies beyond the scope of physical therapy, it may prevent the rapid aggravation of the clinical phenotype [10,11,17]. Recent studies suggest that CMT patients experience physical as well as mental benefits from rehabilitation programmes, but they also perceive that the performed exercises were not specifically designed to their needs [11]. In fact, there is little evidence-based data and no common consensus on rehabilitation in patients suffering from Charcot-Marie-Tooth disease.
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