Hunter Syndrome Diagnosis Information
Many of the early signs and symptoms of Hunter syndrome are commonly seen in infants and toddlers, so the road to diagnosis often takes time. As a parent and caregiver, it's important to be an advocate for your child. Educating yourself and providing information to your pediatrician can go a long way toward getting a diagnosis more quickly.
The path to diagnosis:
- Symptoms usually appear between 2 to 4 years of age
- Visible signs and symptoms of Hunter syndrome (MPS II) are usually the first clues
- Doctors may use laboratory tests to provide additional evidence that an MPS disorder is present and refer you to a medical geneticist for further testing
- A definitive diagnosis of Hunter syndrome is made by measuring the iduronate-2-sulfatase (I2S) enzyme activity
Featured Resource: The National MPS Society
The National MPS Society supports families and individuals affected by MPS and related diseases. They work to advance scientific research and increase public and professional awareness of MPS.
