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.

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2024年4月1日 · Mutations in the gene encoding MFN2 have been identified as associated with Charcot–Marie–Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system.

What Is Charcot-Marie Tooth Disease (CMT)? Charcot-Marie-Tooth disease (CMT) is the most commonly used name for a wide variety of inherited neuropathies. More than 70 different genes that cause CMT have been identified, several by Penn clinician-scientists.

CMT neuropathies have been classified clinically and electrophysiologically in the pre-molecular era using at least three different criteria: First, according to severity and age of onset; second, whether they are primarily demyelinating or axonal; and third, whether they affect both motor and sensory, or almost exclusively one of the two fiber ...

2019年10月3日 · In Charcot–Marie–Tooth disease (CMT), next-generation sequencing (NGS) technologies are applied in the form of specific CMT-associated gene panels, whole-exome sequencing, whole-genome...

2021年10月4日 · Genetic neuropathies that primarily cause axonal degeneration, as opposed to demyelination, are most often classified as Charcot-Marie-Tooth disease type 2 (CMT2) and are the focus of this review.

CMT is a major hereditary neurological disorder, with an estimated incidence of 10 to 40 per 100,000 individuals. Based on this pattern, the neuropathies can be classified into three main types: autosomal dominant (demyelinating [CMT1] and axonal [CMT2]), X-linked (CMTX1), and autosomal recessive [2, 3].

Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy, and with an estimated prevalence of one in 2,500, one of the most common inherited diseases in humans.

2025年1月17日 · Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), refers to a heterogeneous group of inherited peripheral neuropathies rather than a single clinical entity 9. The prevalence of CMT has been reported at ~45 cases (range 10-82) per 100,000 people with significant regional variation 4,10.