Charcot-Marie-Tooth DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is a group of disorders this is characterized by damage to the nerves that are involved in muscle movement and sensation (motor and sensory neuropathy). This condition mainly affects peripheral nerves, which connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat. In people with Charcot-Marie-Tooth disease, damage to the peripheral nerves worsens over time and can cause changes in sensation and wasting (atrophy) of muscles in the feet, legs, and hands.
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in dozens of different genes can cause Charcot-Marie-Tooth disease. These genes provide instructions for making proteins that are involved in the function of peripheral nerves. The variants that are associated with Charcot-Marie-Tooth disease can cause cells to produce proteins that do not work properly. These changes affect myelin or the axons of nerve cells and slow down or weaken nerve signals. Longer nerves that run from the spinal cord to the hands and feet are especially vulnerable. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles in the feet, legs, and hands, and to transmit sensory signals from these areas to the brain. Different variants in the same gene can lead to different types of Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth disease is the most common inherited disorder that involves the peripheral nerves, affecting an estimated 125,000 people in the United States. It occurs in populations worldwide, with a prevalence of about 1 in 2,500 individuals.
The pattern of inheritance varies depending on the type of Charcot-Marie-Tooth disease.
University Of Rochester
David Herrmann is a Neurologist practicing medicine in Rochester, New York. Dr. Herrmann is rated as an Elite provider by MediFind in the treatment of Charcot-Marie-Tooth Disease. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Charcot-Marie-Tooth Disease, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Tomaculous Neuropathy.
Neuroscience Institute
Kurt Thomas is a Neurologist practicing medicine in Paramus, New Jersey. He has been practicing medicine for over 44 years. Dr. Thomas is rated as an Elite provider by MediFind in the treatment of Charcot-Marie-Tooth Disease. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Charcot-Marie-Tooth Disease, Multiple Sclerosis (MS), Primary Lateral Sclerosis, and Relapsing Multiple Sclerosis (RMS). Dr. Thomas is board certified in American Board Of Physical Medicine And Rehabilitation and American Board Of Psychiatry And Neurology.
Mario Saporta is a Neurologist and a Neuromusculoskeletal Medicine provider practicing medicine in Miami, Florida. Dr. Saporta is rated as an Elite provider by MediFind in the treatment of Charcot-Marie-Tooth Disease. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Charcot-Marie-Tooth Disease, Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 1A, and Limb-Girdle Muscular Dystrophy Type 2B. Dr. Saporta is currently accepting new patients.
Summary: The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders: Charcot-Marie-Tooth (CMT), Facioscapulohumeral Muscular Dystrophy (FSHD), and Myotonic Dystrophy Type 1 (DM1). The key objectives are: 1. To investigate if the intervention group experience...
Summary: The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropath...
Published Date: May 08, 2026
Published By: National Institutes of Health