
Charcot-Marie-Tooth disease type 1A | About the Disease | GARD
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 …
Charcot-Marie-Tooth Disease Type 1A (CMT1A) - CMT Research Foundation
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 …
CMT Type 1 - Charcot–Marie–Tooth Association
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. …
Charcot-Marie-Tooth disease - Symptoms & causes - Mayo Clinic
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 …
Charcot-Marie-Tooth Hereditary Neuropathy Overview
1998年9月28日 · Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor …
Charcot-Marie-Tooth Disease - National Institute of Neurological ...
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 …
CMT1A current gene therapy approaches and promising biomarkers
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 …
Charcot–Marie–Tooth Disease Type 1A (CMT1A)
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 …
Charcot-Marie-Tooth Disease (CMT) - Muscular Dystrophy …
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, …
Orphanet: Charcot-Marie-Tooth disease type 1
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 …