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.

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.

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.

2023年3月8日 · Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy. Charcot-Marie-Tooth disease results in smaller, weaker muscles. You may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common.

2025年1月6日 · A subtype of CMT1 called CMT1A is the most common type of CMT. It happens when a gene that is important to making the myelin sheath is duplicated and too much of the protein PMP22 is made in the cells that wrap around the axon. Symptoms of CMT1A often begin during childhood and slowly get worse over time.

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.

CMT1A gene therapy is a rapidly emerging and promising field. We suggest that direct silencing of overexpressed PMP22 closer to physiological levels is the most promising and effective approach to reverse and restore the genetic mechanism of CMT1A.

CMTA actively works to improve the quality of life for all CMT-affected families. Currently, there is no cure for CMT, but we can change that with your support. Donate now and help us accelerate research to develop treatments and a cure for 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. Duplication of PMP22 leads to accumulation of the peripheral myelin protein 22 (PMP22) protein, and point mutations alter its ...

cmt1a: Caused by a duplication of the PMP22 gene. Duplication of the PMP22 gene leads to an overproduction of the PMP22 protein, which is essential for the structure of peripheral nerves.