is caused by a mutation in the ITPR3 gene
it has been found in about 30 people worldwide.
autosomal dominant disease
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.
Our first step is to find the 1J community: affected families, interested clinicians and researchers.
We would love to connect and keep you up to date.
The 1J Foundation is a 501(c)(3) tax-exempt organization (EIN 93-2224114). Contributions are tax-deductible to the extent permitted by law.
cmt1jfoundation@gmail.com
7143 N McAlpin Ave
Chicago, IL 60646