What is Martins disease?

Answer 1

Martin's disease, also known as Martin's syndrome, is a rare genetic disorder characterized by a combination of symptoms, including developmental delays, intellectual disability, and distinctive facial features. The condition is caused by mutations in the GNAO1 gene, which plays a role in neuronal signaling. Diagnosis typically involves genetic testing, and management focuses on supportive care to address developmental and cognitive challenges. Due to its rarity, awareness and understanding of the disease are still evolving.