Below is a summary for the SPAST gene observed in research publications. This is not meant to take the place of medical advice.
What is SPAST -related syndrome?
SPAST -related syndrome happens when there are changes to the SPAST gene. These changes can keep the gene from working as it should.
Genetic variants in SPAST can also cause a condition called spastic paraplegia type 4.
The SPAST protein plays an important role in organizing the skeleton of the cell.
Because the SPAST gene is important for the proper function of the body’s cells, some people may have:
- Inability to hold their urine
- Lower back pain
- Lower body weakness
- Stiff walking
- Intellectual decline or disability
- Memory issues
Do people who have SPAST -related syndrome look different?
People who have SPAST -related syndrome do not look different. Those studied so far do not have a specific set of features.
How many people have SPAST -related syndrome?
As of 2022, about 401 people with SPAST -related syndrome have been identified in a medical clinic.
Research Article Summary