CMT2 degenerates axons communicating to muscles and conveying information about sensation. CMT2 is a slow, progressive disorder. Over time, muscle weakness and numbness will extend further up the legs and begin to affect the arms and hands.

Unlike CMT1, which results from damage to the myelin sheath insulating axons, CMT2 is caused by direct damage to nerve axons themselves. CMT2 is commonly referred to as “axonal” CMT. CMT2A is the most common subtype of CMT2 (it accounts for 20% of the cases of axonal CMT) and is caused by defects in the MFN2 gene.

CMT2 patients show little if any slowing in their nerve conductions, and biopsies show the loss of myelinated axons but little segmental demyelination/remyelination. The clinical presentation is similar to Type 1: distal weakness, muscle atrophy, sensory loss and foot deformities.

Jun 22, 2024 · CMT2: CMT2 represents 15% to 30% of cases and is characterized by axonal pathology, an autosomal dominant mode of inheritance, onset typically in the second or third decade, distal motor weakness, and normal or slightly slowed NCVs (>40 m/s). The most common gene mutation associated with CMT2 is in MFN2.

Jan 6, 2025 · CMT2 affects the axon of peripheral nerve cells and is less common than CMT1. There are more than a dozen types of CMT2, linked to specific gene changes. In addition to the more typical symptoms of CMT, some types of CMT2 can cause speech or breathing problems due to nerve damage.

什么是CMT2？ Charcot-Marie-Tooth疾病2型 （CMT2）是一种CMT型，具有破坏周围神经轴突结构和功能的遗传缺陷。所以，CMT2通常被称为“轴突CMT”。 CMT2不如 CMT1 常见，约占所有主要CMT病例 的三分之一 。 症状. CMT2症状与CMT1相似，但发病年龄和残疾程度存在差异。

cmt2最常见的原因是 mfn2基因 突变，约占病例的20％。 大约90％的CMTX患者都有 GJB1基因 突变。 已经在少数具有这些和其他类型的人中鉴定了许多其他基因的突变。

Nov 19, 2021 · Charcot-Marie-Tooth disease type 2 (CMT2) is a type of CMT whose genetic defects, or mutations, disrupt the structure and function of axons — the long projections of nerve cells that conduct signals to the next nerve cell or muscle cell.

cmt是最常见的遗传性周围神经病之一（发病率约为1/2500）。根据临床和电生理特征，cmt分为两型：cmt1型（脱髓鞘型），神经传导速度（ncv）减慢（正中神经传导速度s），cmt2型（轴突型），神经传导速度正常或轻度减慢(正中神经传导速度＞38m/s)。

ad遗传方式的cmt依神经传导速度改变分为两型，即cmt1和cmt2。ar遗传模式型为 cmt4，较罕见。另外还有x连锁显性遗传型 (cmtx)。 据国内报告的病例总结，有遗传家族史的占 88%，散发病例占 12%，与国外报告的相似。