Hereditary Neuropathies and Genetic Testing
The Hereditary Neuropathy Center at Hackensack University Medical Center is recognized as a Center of Excellence by the Hereditary Neuropathy Foundation and by the CMT Association.
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.