Rede SARAH de Hospitais de Reabilitação, Unidade Lago Norte, Ambulatório de Doenças Neuromusculares, Brasília DF, Brazil.
Berenstein Medicina Diagnóstica, Recife PE, Brazil.
Arq Neuropsiquiatr. 2023 Oct;81(10):913-921. doi: 10.1055/s-0043-1770348. Epub 2023 Aug 23.
Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease (CMT), traditionally refers to a group of genetic disorders in which neuropathy is the main or sole feature. Its prevalence varies according to different populations studied, with an estimate between 1:2,500 to 1:10,000. Since the identification of gene duplication on chromosome 17 by Vance et al., in 1989, more than 100 genes have been related to this group of disorders, and we have seen advances in the care of patients, with identification of associated conditions and better supportive treatments, including clinical and surgical interventions. Also, with discoveries in the field of genetics, including RNA interference and gene editing techniques, new treatment perspectives begin to emerge. In the present work, we report the most import landmarks regarding CMT research in Brazil and provide a comprehensive review on topics such as frequency of different genes associated with CMT in our population, prevalence of pain, impact on pregnancy, respiratory features, and development of new therapies.
遗传性运动感觉神经病，又称夏科-马里-图什病（CMT），传统上是指一组以周围神经病为主要或唯一特征的遗传性疾病。其发病率因不同研究人群而异，估计为 1:2500 至 1:10000。自 1989 年 Vance 等人在 17 号染色体上发现基因重复以来，已有 100 多个基因与这组疾病相关，我们看到了患者护理的进展，包括相关疾病的识别和更好的支持性治疗，包括临床和手术干预。此外，随着遗传学领域的发现，包括 RNA 干扰和基因编辑技术，新的治疗前景开始出现。在本工作中，我们报告了巴西 CMT 研究的最重要里程碑，并对我们人群中与 CMT 相关的不同基因的频率、疼痛的流行、对妊娠的影响、呼吸特征以及新疗法的发展等主题进行了全面综述。
