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 come soon. The 1JFoundation helps to fund the cost for treatment research to prevent progress of symptoms for symptomatic people and eliminate the development of symptoms for asymptomatic people.
Organized by 1J Foundation
501(c)(3) Public Charity · EIN 93-2224114
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