Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life
Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life
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DOI：
10.1007/s10072-009-0202-z
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发表时间：
2010-04-01
影响因子：
3.3
通讯作者：
Schenone, A.
中科院分区：
文献类型：
--
作者：
Padua, Luca;Pareyson, D.;Schenone, A.
腓骨肌萎缩症（CMT）是最常见的遗传性神经病，目前没有治疗方法，但临床试验正在进行中。因此，了解疾病的自然史非常重要。我们报告CMT 2患者的临床特征和生活质量（QoL）的自然史的结果。入组了20例患者。在招募和随访（2年）时，所有患者均接受神经系统评价、生活质量和残疾评估。研究结束评价在基线评价后20-28个月进行。在2年的随访期间，CMT 2患者显示上肢远端肌肉和下肢近端肌肉的力量轻度降低，感觉功能恶化，行走残疾轻度增加。然而，除了一个心理健康领域的轻度恶化外，没有相关的生活质量恶化。
Charcot-Marie-Tooth (CMT) disease is the most frequent inherited neuropathy, no therapies are available at the moment but clinical trials are ongoing. For that reason it is very important to know the natural history of the disease. We report the results of the natural history of clinical features and quality of life (QoL) in patients with CMT2. Twenty patients were enrolled. At recruitment and at follow-up (2 years), all patients underwent neurological evaluation, QoL and disability assessments. The study-end evaluation took place 20-28 months after the baseline evaluation. During the 2-year follow-up period, CMT2 patients showed a mild reduction of strength of distal muscles of upper limbs and proximal muscles of lower limbs, a worsening sensory function and a mild increase in walking disability. However, there was no relevant worsening of QoL, except for a mild deterioration of one mental health domain.