Charcot-Marie-Tooth disease type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. People with this disease experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they can also have hand weakness and sensory loss.

2024年6月22日 · CMT type 1A, the most common CMT neuropathy, is caused by a 1.5-Mb duplication of chromosome 17p11.2, resulting in trisomy of PMP22. Due to its large size, this region is susceptible to frequent genomic rearrangements.

Charcot-Marie-Tooth disease type 1A is the most common form of CMT, accounting for about half of people with CMT. CMT1A is commonly referred to as “demyelinating” CMT. CMT1A, like other forms of CMT1, is inherited in an autosomal dominant fashion. This means you can inherit the disease from either parent if they also have the disease.

CMT1A患者一般10岁以内发病，呈慢性进展性病程，严重程度不同，外显率近于100%，部分患者无肌无力和肌萎缩，仅有弓形足或神经传导速度减慢，甚至无临床症状。 腓骨肌萎缩症1A型临床表现与诊断要点： 70%的遗传性CMT1A家系和90%的CMT1A散发患者是由17号染色体p12区域一段包含PMP22基因的1.5Mb左右的重复导致的，可用CNV-seq、CMA、MLPA等方法进行检测，此重复患者2/3为遗传自父母的，剩余1/3为新发突变。 少部分患者是由PMP22基因的 致病性点 …

进行性神经性腓骨肌萎缩症，即（Charcot-Marie-Tooth disease、C-M-T，又称 腓骨肌萎缩症 、 恰克-馬利-杜斯氏症），是以三位最早发现此病的法国研究者的姓氏共同命名的。 其主要表现是双腿渐进性无力，患者发病年龄一般在二十到四十岁之间，是一种罕见的 遗传疾病。 DNA检测问世以前，腓骨肌萎缩症只能通过临床症状诊断，因为无法早期诊断，在医学教科书或者医学刊物中所讨论的病例都是很严重的类型 [1]。 目前可以通过DNA检测技术进行CMT的早期诊断。 一旦 …

Charcot-Marie-Tooth 1A (CMT1A) is regarded as the most common hereditary peripheral neurodegenerative disorder. This narrative review highlights perspectives around the historically well-established and characteristic anatomical manifestations of CMT1A seen in the feet, legs and hands, in addition t …

Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does.

CMT1A is the most common form of CMT, comprising around 66 percent of all patients with CMT1. The disorder is caused by a duplication of the PMP22 gene on Chromosome 17. Instead of having two copies of the gene (one from each parent), there are three copies, two on one chromosome and one on the other.

Objective: To describe four cases of Charcot-Marie-Tooth disease type 1A (CMT1A) who developed Guillain-Barré syndrome (GBS), respectively the most frequent genetic and inflammatory neuropathies. Methods: We described the patients' clinical and electrodiagnostic characteristics. Results: Our CMT1A patients developed …

2023年1月5日 · 为进一步比较两种病理情况的蛋白质特征，实验收集了鼠龄3个月的1A型Charcot-Marie-Tooth病、坐骨神经挤压伤后1个月和未受伤的野生型大鼠远端坐骨神经，对其蛋白质进行定量质谱 SWATH LC-MS/MS分析。