
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 (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 (CMT1A) - CMT Research Foundation
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of CMT, accounting for about half of people with CMT. Learn more here.
Charcot-Marie-Tooth Disease | National Institute of Neurological ...
2025年1月6日 · How a person inherits CMT, how old they are when they first have symptoms, and whether their CMT affects axons or myelin are all factors in what symptoms the person has. There are several different types of CMT: CMT1 is caused by problems in the myelin sheath. A subtype of CMT1 called CMT1A is the most common type of CMT.
CMT Type 1 - Charcot–Marie–Tooth Association
CMT Type 1 (CMT1) is defined as an autosomal dominant demyelinating form of Charcot-Marie-Tooth disease. Learn more about CMT1 and subtypes.
Charcot-Marie-Tooth Disease (CMT) - Muscular Dystrophy …
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 …
Types of CMT - Charcot–Marie–Tooth Association
The types are the clinical pictures of CMT (CMT type 1, 2, 4, X, etc.), usually defined by inheritance pattern and nerve conductions. Subtypes (CMT1A, 2B, 4C, X1, etc.) are given only when the genetic cause is known.
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 the demyelination of the peripheral nerves.
Charcot-Marie-Tooth disease type 1A - National Organization …
Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss.
CMT1A current gene therapy approaches and promising biomarkers
CMT type 1A (CMT1A; OMIM #118220) is the commonest type of CMT (accounting for ~50% of all CMTs) and results from the duplication of the peripheral myelin protein 22 (PMP22) gene located on chromosome 17p11.2 (Skre, 1974).
Charcot-Marie-Tooth disease type 1A - MedLink Neurology
1999年9月10日 · Charcot-Marie-Tooth disease type 1A (CMT1A) is the single most common subtype of Charcot-Marie-Tooth disease, with a reported prevalence of approximately 1 in 5000. Although several new gene loci and genes are reported each year for novel subtypes, CMT1A remains among the best-studied forms.