GRAMD3
GRAMD3: A Rare Genetic Disorder Affecting the Brain and Muscles
Description
GRAMD3 (GRAM Domain Containing 3) is a rare genetic disorder caused by mutations in the GRAMD3 gene. This gene plays a crucial role in the development and function of the brain and muscles. Mutations in the GRAMD3 gene lead to the production of a non-functional protein, which disrupts various cellular processes.
Associated Diseases
GRAMD3 mutations are primarily associated with two main disorders:
- Spastic Quadriplegia Type 3: This condition affects the brain and spinal cord, causing developmental delays, intellectual disability, and severe muscle stiffness (spasticity) in all four limbs.
- Arthroencephalopathy: This disorder affects both the brain and joints. It is characterized by intellectual disability, seizures, ataxia (difficulty with coordination), and joint stiffness.
Did you Know ?
The estimated prevalence of GRAMD3 disorders is extremely low, affecting approximately 1 in 1,000,000 individuals worldwide.
