CMT1J is caused by a mutation in the ITPR3 gene. It's an autosomal dominant disease. If you have it, there's a 50% chance of passing it down to your child. The severity of symptoms is extremely variable, from asymptomatic to life-threatening. Symptoms can start from infancy to adulthood.
There is a path to treatment. Work is already being done to find treatment -- more to...
Organized by 1J Foundation
501(c)(3) Public Charity · EIN 93-2224114
cmt1jfoundation@gmail.com