The Charcot-Marie-Tooth (CMT) Center at the Johns Hopkins Hospital offers comprehensive evaluations and symptom management for patients with confirmed or suspected CMT disease.
- Our multi-specialty team uses a combination of clinical care and patient education to improve the quality of life for patients and families living with this condition.
- We offer opportunities for participation in research studies, including clinical trials, related to the causes, mechanism and treatment of CMT.
- Our Center is recognized in the U.S. and internationally as a leader in CMT patient care and clinical trials and therapies. The center is one of five National Centers of Excellence established by the CMT Association and the Muscular Dystrophy Association.
About Charcot Marie-Tooth Disease
CMT disease is an inherited peripheral nerve disorder caused by a range of changes in the genes responsible for nerve function. People with CMT experience nerve damage resulting in changes in sensation, balance, and muscle strength, especially in the legs and hands. Depending on the genetic variant and other factors, the symptoms range from mild to severe.
The CMT Center provides comprehensive clinical care, disease education, as well as empathy and support for patients and their families. From initial diagnosis to the advanced stages of disease, we work with patients to maximize health and functioning through therapy, exercise and nutrition.
- During your first appointment, you will be evaluated by a neurologist – a specialist trained in neuromuscular diseases, CMT, and other disorders related to CMT.
- Once the CMT diagnosis is confirmed by the neurologist, the multi-specialty care team will work with you to develop a custom treatment plan.
- Depending on your treatment plan, our center can offer physical and occupational therapy, orthotics (bracing and other supportive devices), genetic counseling and electromyography (EMG) testing.
Research and Clinical Trials
The Charcot-Marie-Tooth (CMT) Center is part of the Inherited Neuropathy Consortium (INC), a group of academic medical centers, patient support organization, and clinical research resources dedicated to conducting clinical research in different forms of CMT and improving patient care. Our center participates in ongoing studies coordinated by the INC. Our patients who might benefit from and are eligible for clinical research studies are offered an opportunity to participate. Studies may include natural history, genetic and disease biomarker studies.
Despite many advances in the genetics of inherited disorders, the natural history of CMT remains poorly understood. The INC Registry provides a centralized registry to document the natural history of CMT patients seen in CMT Centers across North America, Europe, and Australia. 10,000 patients have been enrolled, making this registry a powerful research tool. This research has already led to the identification of several novel disease-causing genes and continues to provide vital information that is essential for designing future clinical trials.
If you are interested in participating in this study, you will be provided with more detailed information about the study design and how we will protect your privacy before being enrolled. The collected data includes information about your sensory deficits and muscular weakness, as well as a short questionnaire that discusses your symptoms and your family history. Every time you return to the CMT Clinic in the course of the next 10 years, we will do a follow-up evaluation to document the symptom progression over time. The protocol does not require extra study visits, as we do follow-up evaluations as part of regular yearly clinic visits. The initial visit requires about 20 minutes of extra time, and then 10 minutes of extra time for each follow up visit.
To facilitate comprehensive evaluation of patients with TRPV4 neuropathy and TRPV4 skeletal dysplasia, Dr. McCray and Dr. Sumner have developed a TRPV4 Channelopathies Clinic within the framework of the CMT Center. This clinic not only includes the services provided by the CMT Center (physical and occupational therapy, orthotics, genetics counseling, EMG), but also access to evaluation by collaborators from otorhinolaryngology (ENT), ophthalmology, orthopedics, genetics, and vascular neurology.
Patients with confirmed diagnosis of TRPV4 neuropathy are asked to complete a patient questionnaire that discusses common symptoms associated with this condition as well as symptom progression over the past few years. For pediatric patients, a modified questionnaire can be completed by a guardian. In the initial phase, the patients will be asked to fill out the questionnaire once, but a modified follow up questionnaire may be developed in the future to further evaluate disease progression.
Both patients who are already enrolled in INC as well as patients seen at other academic sites with a diagnosis of TRPV4 neuropathy may participate in the study. Enrollment in this study takes approximately 30 minutes to complete. For those who cannot be evaluated at a participating INC clinical center, a virtual enrollment option conducted via telemedicine is available.
Extended Care Team
- Christy Smith
- Anne Spar and Meredith Drake
- Michelle Koehler
Orthotist- Dennison Orthotics
- NuMotion and Jeff Cupps
Durable Medical Equipment Rep.
- Jennifer Bolling
Muscular Dystrophy Association Rep.
- Theresa Cox
Muscular Dystrophy Association Clinic Coordinator
- Eun Park
CMT Study Coordinator