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.

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.

Jan 6, 2025 · Charcot-Marie-Tooth disease (CMT) is a group of genetic conditions that affect the nerves connecting the brain and spinal cord to the rest of the body. CMT is the most common inherited neuropathy. Neuropathy describes a nerve condition that causes pain, swelling, or …

Jun 22, 2024 · 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.

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.

CMT1 is caused by damage to the myelin sheath covering nerves. CMT1 is commonly referred to as “demyelinating” CMT. A subtype of CMT1 called CMT1A (caused by a duplication or, less commonly, a point mutation in the PMP22 gene on chromosome 17) accounts for around 70% to 80% of CMT1 cases, making it the most common subtype of CMT1.

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 致病性点突变 导致的，可用全外显子组测序、包含PMP22的 基因panel 等高通量测序方法进行检测，Sanger测序亦可，但成本市场原因应用较少。 腓骨肌萎缩症1A型应对策略. 成人和儿童患者目前尚无特效治疗方法，根据 …

CMT1A is the single most common form of Charcot-Marie-Tooth disease. This sub-type of CMT is caused by the duplication of the Peripheral Myelin Protein 22 (PMP22) gene, which leads to the demyelination of the peripheral nerves.

Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.

CMT type 1A (CMT1A) is the most frequent type and accounts for almost ~50% of all diagnosed CMT cases. CMT1A results from the duplication of the peripheral myelin protein 22 (PMP22) gene. Overexpression of PMP22 protein overloads the protein folding apparatus in Schwann cells and activates the unfolded protein response.