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 know it because they received a diagnosis of Cerebral Palsy and were not offered genetic testing to check for any genetic causes.
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, Pedro J. Gonzalez-Mantilla, MD, and his Geisinger research team found the diagnostic yield of exome or genome sequencing to be 31.1%.
CTNNB1 is the most common genetic cause of misdiagnosed Cerebral Palsy.
-Genetics in Medicine, November 2022, Volume 24, Issue 11
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 the necessary connection between under-diagnosed or undiagnosed families and our CTNNB1 community.