2023年3月8日 · Charcot-Marie-Tooth disease is an inherited, genetic condition. It occurs when there are mutations in the genes that affect the nerves in your feet, legs, hands and arms.

Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.

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 and sensory neuropathy (HMSN).

There are three distinct inheritance patterns that encompass all the many variations of CMT. The most common forms of CMT are inherited in an autosomal dominant pattern. Autosomal means that the mutation occurs on a chromosome other than the X or Y chromosome.

This guide provides a complete accounting of CMT subtypes and identified CMT-associated genes for everyday CMTers and practicing clinicians to reference.

2025年1月6日 · 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 …

Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and …

2024年6月22日 · Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, characterized by progressive weakness of the extremities due to peripheral nerve damage. The disease primarily affects the lower limbs, leading to foot deformities, sensory loss, and muscle weakness.

Mutations in more than 30 genes affecting glial and/or neuronal functions have been associated with different forms of CMT leading to a substantial improvement in diagnostics of the disease and in the understanding of implicated pathophysiological mechanisms.

CMT is a genetically heterogeneous disorder in which mutations in different genes can produce the same clinical symptoms. In CMT there are not only different genes but different patterns of inheritance. One of the most common forms of CMT is Type 1A.

Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically heterogeneous disorders affecting the peripheral nerves, causing significant and slowly progressive disability over the lifespan.

2020年6月16日 · CMT is a genetic disorder, meaning it’s caused by a change, or mutation, in your genes. If you have CMT, you might be wondering how you got it. It’s likely that other people in your family have it, too — though this isn’t always the case. To understand how and why, you must know a bit about genetics.

2022年3月18日 · Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–Marie–Tooth (CMT) disease has helped identify the causative genes provided better...

Charcot-Marie-Tooth neuropathies (CMT) constitute a group of common but highly heterogeneous, non-syndromic genetic disorders affecting predominantly the peripheral nervous system. CMT type 1A (CMT1A) is the most frequent type and accounts for almost ~50% of all diagnosed CMT cases.

2024年12月24日 · Charcot-Marie-Tooth Disease (CMT) is synonymous with the term hereditary motor sensory neuropathy (HMSN). CMT encompasses a range of disorders resulting from genetic mutations in different genes, leading to abnormalities in proteins expressed in myelin, gap junctions, and/or axonal structures found in peripheral nerves.1

More than 30 genes have been implicated in CMT. In different types of CMT, peripheral nerve damage can be caused by defects in genes coding for proteins affecting axons, or by defects in genes coding for proteins affecting the insulating myelin coating around each axon — or both.

2024年12月17日 · Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathy, is the most common hereditary neuropathy. It is slightly more common in females than males and usually autosomal dominant in inheritance.

2013年12月27日 · CMT is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of CMT is …

2025年2月17日 · Charcot-Marie-Tooth disease (CMT disease) is an umbrella term for a group of genetic conditions that affect the nerves. These conditions are due to inherited genetic mutations which cause the genes to malfunction. Different mutations can …

Charcot-Marie-Tooth disease (CMT) is caused by mutations (faults) in genes that cause the peripheral nerves to become damaged. The peripheral nerves are a network of nerves that run from the brain and spinal cord (the central nervous system).