Rare nerve disease study seeks volunteers to track symptoms for 6 years

This study aims to document how TRPV4 neuropathy changes over 6 years in people with a confirmed TRPV4 gene mutation. Researchers will track symptoms, nerve function, and disability through annual visits at Johns Hopkins. The study does not test any treatment but will help understand the disease's natural course. Eligible participants include patients aged 3-80 with a TRPV4 mutation or their first-degree relatives.