Hereditary Neuropathies and Genetic Testing
Our center provides patients with leading-edge care for Charcot-Marie-Tooth (CMT) disease and other hereditary neuropathies.
The Center’s Director, Florian P. Thomas, M.D., M.A., Ph.D., MS, is a leader in the field of hereditary neuropathy. Dr. Thomas has cared for people with CMT and engaged in CMT research for over 30 years. He has also been active with CMT advocacy groups, such as the Hereditary Neuropathy Foundation and the CMT Association, and in 1998—together with a patient—founded the CMT Association peer support group in St. Louis, Missouri.
Dr. Thomas has published on several CMT subtypes; identified, with an international team of collaborators, a novel CMT gene; and spearheaded, in the United States, two of the first clinical trials evaluating treatments for the most common subtypes of CMT. Treatment studies for adults and children are ongoing or about to start.
Our neurologists are actively engaged in hereditary neuropathy research and advocacy. Our team is currently participating in Phase II and Phase III international clinical trials that seek to establish medications to treat CMT hereditary neuropathies.
Diagnosis
To diagnose your condition, our neurologists will evaluate your symptoms, physical health and medical history.
Our team may also order diagnostic tests, including:
- Electromyography (EMG) and nerve conduction study (NCS): EMG and NCS measure the electrical activity of your nerves and muscles.
- Genetic Testing: A small sample of blood is analyzed to look for defects in your genes that cause hereditary neuropathies.
- Nerve Biopsy: A nerve biopsy is an outpatient surgical procedure that involves removing a small sample of nerve for lab analysis.
- Other Lab Tests: These serve to ensure that no additional problems exist that can affect your nerves.
Treatment
After diagnosing hereditary neuropathy, our team will work closely with you to develop a comprehensive treatment plan. Treatment may include:
- Genetic Counseling: Genetic counselors will interpret the results of genetic testing and help you understand how hereditary neuropathy is passed through blood relatives.
- Occupational Therapy: Occupational therapists will recommend tools to help you perform everyday tasks, such as grooming, typing and writing.
- Orthotics: Orthotic specialists fit patients with ankle braces, customized footwear and other devices to assist with balance and walking.
- Physical Therapy: Physical therapy can help improve or maintain muscle strength and balance while reducing fall risk.
- Psychological Counseling: Counseling psychologists help you optimize your lifestyle and cope with the challenges of living with CMT.
- Surgery: Since CMT can lead to foot and ankle deformities and impair the ability to walk, we often refer patients to our expert orthopedic foot and ankle surgeons. They discuss with our patients if and when to perform surgeries to correct such deformities, rebalance muscles, and minimize the risk of injury. Lack of sensation may also contribute to skin breakdown and ulcers. Foot and ankle surgeons can facilitate ulcer healing and prevent ulcer formation by prescribing proper shoes and ankle braces.
Research
Our neurologists routinely lead and participate in CMT research and provide patients with access to the latest evidence-based therapies and most promising clinical trials. Dr. Thomas is currently leading multiple U.S. centers in two international clinical trials to study novel treatments for CMT disease.At the 71st American Academy of Neurology Annual Meeting in Philadelphia in May 2019, Dr. Thomas was recognized for two abstracts: “Efficacy and Safety of PXT3003 in Patients With Charcot-Marie-Tooth Type 1A: Results of PLEO-CMT, an International Pivotal Phase 3 Trial” and “Results of the Dose Escalation Portion of a Phase 2 Study of ACE-083, a Local Muscle Therapeutic, in Patients With Charcot-Marie-Tooth Disease."
Meet Our Team
Florian P. Thomas, M.D., M.A., Ph.D., M.S.
Neurologist
Wayne Berberian, M.D.
Foot and Ankle Surgeon