El-Abassi Rima, England John D, Carter Gregory T
Department of Neurology at the Louisiana State University School of Medicine, New Orleans, LA(∗).
Department of Neurology at the Louisiana State University School of Medicine, New Orleans, LA(†).
PM R. 2014 Apr;6(4):342-55. doi: 10.1016/j.pmrj.2013.08.611. Epub 2014 Jan 13.
Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuromuscular disorders. Our understanding of the molecular genotypes of CMT and the resultant clinical and electrophysiological phenotypes has increased greatly in the past decade. Characterized by electrodiagnostic studies into demyelinating (type 1) and axonal (type 2) forms, subsequent genetic testing often provides an exact diagnosis of a specific subtype of CMT. These advancements have made diagnostic paradigms fairly straightforward. Still, the nature and extent of neuromuscular disability is often complex in persons with CMT, and no curative treatments are yet available. Genotypically homologous animal models of CMT have improved exploration of disease-modifying treatments, of which molecular genetic manipulation and stem cell therapies appear to be the most promising. Research is also needed to develop better rehabilitative strategies that may limit disease burden and improve physical performance and psychosocial integration. Clinical management should be multidisciplinary, including neurologists, physiatrists, neurogeneticists, neuromuscular nurse practitioners, and orthopedists, along with physical and occupational therapists, speech-language pathologists, orthotists, vocational counselors, social workers, and other rehabilitation clinicians. Goals should include maximizing functional independence and quality of life while minimizing disability and secondary morbidity.
夏科-马里-图思（CMT）病是最常见的神经肌肉疾病之一，它包含多种遗传性运动和感觉神经病变。在过去十年中，我们对CMT分子基因型以及由此产生的临床和电生理表型的理解有了极大的提高。通过电诊断研究可分为脱髓鞘型（1型）和轴索性（2型），随后的基因检测通常能对CMT的特定亚型做出准确诊断。这些进展使诊断模式相当直接明了。然而，CMT患者神经肌肉残疾的性质和程度往往很复杂，而且目前尚无治愈性治疗方法。CMT基因同源动物模型改善了对疾病修饰治疗的探索，其中分子遗传操作和干细胞疗法似乎最有前景。还需要开展研究以制定更好的康复策略，从而减轻疾病负担，改善身体机能和社会心理融合。临床管理应是多学科的，包括神经科医生、物理医学与康复医生、神经遗传学家、神经肌肉专科护士、骨科医生，以及物理治疗师、职业治疗师、言语病理学家、矫形师、职业顾问、社会工作者和其他康复临床医生。目标应包括在将残疾和继发疾病最小化的同时，最大限度地提高功能独立性和生活质量。
