Barreto Lidiane Carine Lima Santos, Oliveira Fernanda Santos, Nunes Paula Santos, de França Costa Iandra Maria Pinheiro, Garcez Catarina Andrade, Goes Gabriel Mattos, Neves Eduardo Luis Aquino, de Souza Siqueira Quintans Jullyana, de Souza Araújo Adriano Antunes
Nx00FA;cleo de Px00F3;s-Graduax00E7;x00E3;o em Medicina da Universidade Federal de Sergipe (UFS), Rua Clx00E1;udio Batista S/N Bairro Sanatx00F3;rio, Aracaju, SE, Brazil.
Neuroepidemiology. 2016;46(3):157-65. doi: 10.1159/000443706. Epub 2016 Feb 6.
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: CMT type 1 (CMT1; demyelinating form) and CMT type 2 (CMT2; axonal form). The objectives of this study were to systematically review and assess the quality of studies reporting the incidence and/or prevalence of CMT worldwide.
A total of 802 studies were initially identified, with only 12 meeting the inclusion criteria. CMT prevalence was reported in 10 studies and ranged from 9.7/100,000 in Serbia to 82.3/100,000 in Norway. The frequency of the main subtypes varied from 37.6 to 84% for CMT1 and from 12 to 35.9% for CMT2; the country with the lowest prevalence of CMT1 was Norway, and the country with the highest prevalence of CMT1 was Iceland; on the other hand, CMT2 was least prevalent in the United Kingdom and most prevalent in Norway.
This review reveals the gaps that still exist in the epidemiological knowledge of CMT around the world. Published studies are of varying quality and utilise different methodologies, thus precluding a robust conclusion. Additional research focusing on epidemiological features of CMT in different nations and different ethnic groups is needed.
夏科-马里-图斯病（CMT）是最常见的遗传性神经病变。CMT主要分为两个亚组：1型CMT（CMT1；脱髓鞘型）和2型CMT（CMT2；轴索性）。本研究的目的是系统回顾和评估报告全球CMT发病率和/或患病率的研究质量。
最初共识别出802项研究，只有12项符合纳入标准。10项研究报告了CMT患病率，范围从塞尔维亚的9.7/10万到挪威的82.3/10万。主要亚型的频率在CMT1中为37.6%至84%，在CMT2中为12%至35.9%；CMT1患病率最低的国家是挪威，CMT1患病率最高的国家是冰岛；另一方面，CMT2在英国最不常见，在挪威最常见。
本综述揭示了全球CMT流行病学知识中仍然存在的差距。已发表的研究质量参差不齐，采用了不同的方法，因此无法得出可靠的结论。需要针对不同国家和不同种族群体中CMT的流行病学特征开展更多研究。
