A website for the inherited neuropathies

Charcot-Marie-Tooth病（CMT）是所有不属于综合征的遗传性神经病变的代名词。CMT是一种比较常见的疾病，约有1:2500人患病（Skre, 1974），但CMT的遗传原因越来越多样化，迄今已确定的基因超过30个。CMT1、CMT2和CMT4共同构成了大多数CMT病例，也是本次资助的重点。主要影响髓鞘形成的雪旺细胞的突变导致脱髓鞘形式的CMT；主要影响神经元的突变会导致“轴突”形式的CMT。进展的速度确实是惊人的，但这在已知的和大多数卫生保健专业人员对CMT的了解之间造成了空白。为了解决这个问题，我将开发和维护一个包含以下功能的网站：

Charcot-Marie-Tooth disease (CMT) is the eponym for all inherited neuropathies that are not part of a syndrome. CMT is a relatively common disease, affecting ~1:2500 people (Skre, 1974), but the genetic causes of CMT are increasingly diverse, with more than 30 genes identified to date. CMT1, CMT2, and CMT4 collectively constitute the majority of CMT cases, and are the focus of this grant. Mutations that primarily affect myelinating Schwann cells cause demyelinating forms of CMT; mutations that primarily affect neurons cause the "axonal" forms of CMT. The pace of progress is truly amazing, but this has created a void between what is known and what most health care professionals know about CMT. To address this problem, I will develop and maintain a website that incorporates the following features: