DMRTA2
DMRTA2: A Genetic Mutation Linked to Neurodevelopmental Disorders
Description
Dystroglycanopathy muscular dystrophy with mental anomaly type 2 (DMRTA2) is a rare genetic condition that primarily affects the nervous system and muscles. It is caused by mutations in the DMRTA2 gene, which encodes a protein that plays a crucial role in maintaining the connections between neurons and other cells in the body.
Associated Diseases
The most common neurodevelopmental disorders associated with DMRTA2 mutations include:
- Intellectual disability
- Autism spectrum disorder
- Epilepsy
- Movement disorders, such as tremors or muscle weakness
- Vision problems
- Hearing loss
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are estimated to have DMRTA2. This makes it a relatively rare condition, but it is still the leading genetic cause of a severe form of congenital muscular dystrophy.
