CTNNB1 Syndrome and Cerebral Palsy (CP) have several overlapping clinical similarities. In fact, this overlap of symptoms is so prominent that some individuals with a CTNNB1 gene mutation may not be aware because they received a diagnosis of Cerebral Palsy and were not offered genetic testing to check for any genetic causes.
You can have both CP and CTNNB1!
Cerebral Palsy is a clinical diagnosis that provides understanding, resources and therapies for associated motor challenges, while CTNNB1 Syndrome is a genetic diagnosis that allows for more support for other disease-related medical concerns.
Serious conditions that may be missed without a genetic diagnosis of CTNNB1:
| Condition | Risk if not found and treated |
|---|---|
| Tethered Spinal Cord | Permanent nerve damage |
| Exudative Vitreoretinopathy | Blindness |
What does the data show?
Approximately 18 million people of all ages have Cerebral Palsy worldwide. Cerebral Palsy is historically associated with birth asphyxia; however, recent studies show that asphyxia accounts for less than 10% of CP cases. Several research studies have aimed to determine the prevalence of pathogenic and likely pathogenic genetic mutations among patients with CP. In a meta-analysis across 13 studies and 2612 individuals with Cerebral Palsy, a Geisinger research team found the diagnostic yield of exome or genome sequencing to be 31.1%.
CTNNB1 is the most common genetic cause of Cerebral Palsy.
Our Initiative
The number of CTNNB1 cases worldwide is estimated to be over 200,000, but there have been less than 500 official diagnoses to date. We want to see every patient with CTNNB1 Syndrome correctly diagnosed. Our community needs them and they need us. An accurate diagnosis provides access to more informed medical care, a community that fully understands, and the opportunity to make big impacts. We are proud to partner with Probably Genetics, who offers free genetic testing for individuals experiencing pediatric-onset seizures, movement difficulties or developmental delay.
Will you help us?
In addition to providing the link above to appropriate individuals that you may know, please spread the word to help bring awareness to this topic and ultimately build the necessary connection between under-diagnosed or undiagnosed families with our CTNNB1 community. Browse our premade resources here!
Access Cerebral Palsy Resources Through Our Partnership with the
Cerebral Palsy Research Network (CPRN)
Thanks to our partnership with the Cerebral Palsy Research Network (CPRN), individuals with CTNNB1-related cerebral palsy and their families now have direct access to a wide range of high-quality CP resources, programs, and support tools available through the CPRN website.
Whether you’re newly navigating a diagnosis or managing life with CP as an adult, CPRN provides trusted, research-informed tools designed to support individuals across all stages of life.
What You Can Find on the CPRN Website
MyCP Community & Registry
Join an online platform to connect with other families, participate in research, and engage in community forums focused on CP.
Adult Care Clinic Finder
Locate adult CP specialists near you using CPRN’s national clinic directory.
Webinars & Wellness Programs
Watch expert-led sessions on topics like pain management, aging, and improving everyday function.
National CP Support Networks
Explore connections to organizations like United Cerebral Palsy, CP Family Network, and local affiliates for additional tools and peer support.
Helpful Educational Resources Available
- CP Tool Kit – A comprehensive guide for families following a CP diagnosis
- Wellbeing Guide – Practical support for caregivers raising children or young adults with CP
- Adult CP Toolkit (in development) – Resources for navigating adulthood with CP, including healthcare transitions, employment, and independent living
- Dystonia in CP Toolkit – Information and lived-experience insights for those affected by dystonia in cerebral palsy
Stay Connected Through Research
Monthly CPRN Webinars share updates on current research and practical tools for the CP community. You can also participate in studies to help shape the future of CP care.
Visit cprn.org to explore all these resources and more.