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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in the GNAO1 gene was identified in a female, age 15, with weakness and stiffness in her limbs (spastic paraparesis), uncontrollable muscle contractions (dystonia), and slurred speech (dysarthria) (read full description).
Jun 08, 2017
G protein subunit alpha o1
The GNAO1 gene codes for an alpha subunit of the guanine nucleotide-binding proteins (G proteins) (Strathmann et al., 1990).
Changes in the GNAO1 gene have been found in individuals with neurodevelopmental conditions. The Bow Foundation is dedicated to supporting individuals and families affected by GNAO1-related conditions.
A change in the GNAO1 gene was also identified in a UDN participant.
Interested in learning more about this gene or sharing what you know? Contact us!