Neuropathy Gene Registry

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Is It Genetic Neuropathy?

If you or close family members have had testing identifying a genetic cause of neuropathy, or have multiple family members with neuropathy symptoms, it’s worth learning about inherited (genetic) forms of neuropathy.

Genetic neuropathies that affect the muscles and strength are known as Charcot-Marie-Tooth, and information is available from neurologists or on the Internet. On the other hand, sensory and small-fiber genetic neuropathies are often unrecognized. Some families go generations without accurate medical diagnosis or effective treatment.

To help, our Neuropathy Gene Registry hosts a secure online registry for people with diagnosed genetic small-fiber neuropathy. This gives patients a private portal to speak with our physicians, and potentially connect with other patients with similar genetic variants.

The registry also helps researchers learn more about rare genetic neuropathies. By gaining understanding of the symptoms associated with specific mutations, and what tests and treatments work best for these lifelong conditions, investigators can improve care and treatment for many others with these conditions.

If you suspect you have a genetic neuropathy, see our page on Genetic Testing to find out more about what tests are available, and what the results mean. Consult our Experts Directory to find a neurologist in your area who understands small-fiber neuropathy.


Join the Registry

 

If you have been diagnosed with a genetic neuropathy, please click the button for more information about joining the registry.

 

 


Questions? Email us at NerveGenes@mgh.harvard.edu.

AlbaCoraini85x115Gene Registry Coordinator
Alba Coraini, MD
Neurology
Massachusetts General Hospital
Brigham and Women's Hospital
Boston, Massachusetts

 

MaikeDohrn85x115_1

Gene Registry Fellow
Maike Dohrn, MD
Fellow
RWTH Aachen University Hospital
Neurology, Neuromuscular Outpatient Clinic and Sodium Channel Network Aachen
Aachen, Germany

 

MadeleineKleinHeadshotGray

Gene Registry Intern

Madeleine Klein
Massachusetts General Hospital Nerve Unit
Boston, United States

                                                                                                                             

 

AnneLouiseOaklander85x115

Registry Director
Anne Louise Oaklander, MD PhD
Director, Massachusetts General Hospital Nerve Unit
Department of Neurology Harvard Medical School
Boston, United States