Description: We exist to bring relief to families affected by Jamuar Syndrome through scientific collaboration for better treatments and a cure.
Are you are a parent or guardian of someone with a UGDH-related disorder? This message is for you.
A Letter for Parents What is Jamuar Syndrome? Jamuar Syndrome is a newly discovered rare genetic disorder caused by variants in the UGDH gene. This disorder affects the neurological system and can cause developmental delay, low muscle tone, loss of motor skills, speech impairment, moderate to severe intellectual disability, and seizures.
No disease-specific treatment exists for this disorder. We’re here to change that.