Charcot-Marie-Tooth (CMT) Center of Excellence

About the Center

The Department of Neurology’s CMT Center of Excellence represents one of few national programs dedicated to supporting patients with inherited neuropathies. As a contributing member of the Inherited Neuropathies Consortium (INC), we are committed to patient care and research.

The hereditary neuropathies are relatively diverse group of inherited diseases, with variable characteristics. People experience a range of symptoms from mild sensorimotor neuropathy and foot deformities to more debilitating proximal weakness and systemic features. Most patients report a long history of slowly progressive disability with difficulty walking, imbalance, hand weakness and numbness.

Bringing together physicians, orthotists, and researchers, the Mass General CMT Center offers a comprehensive experience aimed at improving symptoms, providing educational resources, and advancing research into potential therapies. Our staff will provide complex specialized services focused on improving symptoms and increasing mobility, balance, and muscle strength.

Genetic Testing and Counseling

More than 100 different genetic causes for CMT have been identified. A genetic counselor or other healthcare professional will collect your family health history. Combined with your personal history, this information can be used to determine whether a genetic testing might be right for you and which genetic test to choose. Genetic tests, done by drawing blood, or in some cases through saliva, are available to test for many, but not all, genetic changes causing CMT.

A firm genetic diagnosis can provide information on the rate of progression, clarify potential problems that may develop, and, in some instances, allow for targeted therapies. A genetic diagnosis can be helpful to asymptomatic at-risk family members who might wish to pursue early intervention. Learn more about genetic testing for CMT.

Symptom Management

Consultation with a Neuromuscular Rehabilitation Physiatrist (MD) can provide helpful advice on maximizing function with activities of daily living – whether through exercise recommendations, more targeted therapy plans, bracing, assistive devices, or other medical interventions. 

Orthotic management, or “bracing,” for patients with CMT provides functional benefits with walking. The goal of bracing is to normalize gait patterns by increasing walking speed, eliminating foot drop/foot slap and lateral ankle instabilities, and improving propulsion. Collectively, this decreases energy expenditure and fatigue while improving balance. Walking confidence is improved in CMT patients by ensuring that when the foot hits the ground, the event is both predictable and consistent. Consequently, patients can raise their gaze from the ground to focus on what is in front of them.

Research

Research is an important component of the Mass General CMT Center. Through collaboration with the Inherited Neuropathies Consortium, we aim to train research investigators and advance the understanding, diagnosis, and treatment of inherited neuropathies. Patients at the CMT Center will have the opportunity to participate in the most current research endeavors, including:

• INC-6601, Natural History Evaluation of Charcot Marie Tooth Disease
• INC-6602, Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
• Topiramate for Cryptogenic Sensory Peripheral Neuropathy in Metabolic Syndrome (CSPN) (TopCSPN)

Our Team

The care and research team includes:

• Reza Seyedsadjadi, MD
• Kathy Chuang, MD
• Ken Cornell, CO, FAAOP
• Virginia Clarke, BSN, RN, CCRC
• Trisha Multhaupt-Buell, Clinical Research Program Manager, Genetic Counselor
• Natalie Grant, Research Coordinator
• Cláudia Brito Pires, Research Coordinator