Doctors may suspect progeria based on signs and symptoms characteristic of the syndrome. A genetic test for LMNA mutations can confirm the diagnosis of progeria.
A thorough physical exam of your child includes:
- Measuring height and weight
- Plotting measurements on a normal growth curve chart
- Testing hearing and vision
- Measuring vital signs, including blood pressure
- Looking for visible signs and symptoms that are typical of progeria
Don't hesitate to ask questions. Progeria is a very rare disease, and it's likely that your doctor will need to gather more information before determining next steps in caring for your child. Your questions and concerns can help your doctor develop a list of topics to investigate.