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.

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 ...

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.

2025年1月23日 · Clinical Characteristics of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy. 2. Causes of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy. 3. Evaluation Strategies to Identify the Genetic Cause of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy in a Proband. 4. Management of Charcot-Marie-Tooth (CMT) Hereditary Neuropathy. 5.

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.

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.

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.

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].

Purpose of review: Charcot-Marie-Tooth disease (CMT) is the common terminology used to describe the hereditary neuropathies. This update reviews advances in the past year in our understanding of these diseases, including some important earlier references.