Charcot-Marie-Tooth DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves that worsens over time can result in alteration or loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.
Charcot-Marie-Tooth disease can be caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. In most cases, longer nerves that transmit impulses to the appendages of the body are more likely to be affected. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles in the feet, legs, and eventually the hands, and to transmit sensory signals from these appendages to the brain. Different mutations within a single gene may cause signs and symptoms of differing severities or 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 150,000 people in the United States. It occurs in populations worldwide with a prevalence of about 1 in 3,300 individuals.
The pattern of inheritance varies with the type of Charcot-Marie-Tooth disease. CMT1, most cases of CMT2, and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one affected parent. Each of the children of an affected parent has a 50 percent chance of inheriting the disorder.
Johns Hopkins Outpatient Center
Dr. Charlotte Sumner is a Professor of Neurology and Neuroscience at Johns Hopkins University School of Medicine. Dr. Sumner cares for patients with genetically-mediated neuromuscular diseases. Her practice is notable for a focus on individuals with inherited neuromuscular disorders of peripheral nerves and motor neurons, including spinal muscular atrophy (SMA) and Charcot-Marie-Tooth (CMT) disease. She co-directs the Johns Hopkins Muscular Dystrophy Association Care Center, the Spinal Muscular Atrophy (SMA), and the Charcot-Marie-Tooth (CMT) clinics, which deliver multidisciplinary clinical care, engage in international natural history studies, and provide cutting edge therapeutics. Dr. Sumner’s research focuses on developing treatments for degenerative disorders of motor neurons and peripheral nerves. Her laboratory uses human tissues and induced pluripotent cell lines, mouse models and cultured cells to characterize disease mechanisms and develop treatments. Dr. Charlotte Sumner received her medical degree from the University of Pennsylvania School of Medicine following undergraduate studies at Princeton University. She completed internal medicine internship and neurology residency at the University of California San Francisco, after which she returned to the east coast for a neuromuscular fellowship at Johns Hopkins and a neurogenetics fellowship in the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke. She joined the neurology faculty at Johns Hopkins in 2006. Dr. Sumner is rated as an Elite provider by MediFind in the treatment of Charcot-Marie-Tooth Disease. Her top areas of expertise are Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth Disease, Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, and Gastrostomy.
University Of Rochester
David Herrmann is a Neurologist in Rochester, New York. Dr. Herrmann is rated as an Elite provider by MediFind in the treatment of Charcot-Marie-Tooth Disease. His top areas of expertise are Charcot-Marie-Tooth Disease, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Spinal Muscular Atrophy with Arthrogryposis.
Neuroscience Institute
Kurt Thomas is a Neurologist in Paramus, New Jersey. Dr. Thomas is rated as an Elite provider by MediFind in the treatment of Charcot-Marie-Tooth Disease. His top areas of expertise are Charcot-Marie-Tooth Disease, Multiple Sclerosis (MS), Relapsing Multiple Sclerosis (RMS), and Primary Lateral Sclerosis.
Summary: This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.
Summary: This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases. Furthermore, the investigators want to evaluate the feasibility of collecting physical activity in daily life conditions during a one-week monitoring period using a wearable sensor.
Published Date: October 01, 2018
Published By: National Institutes of Health