Symptoms and Symptom Management

Click on a link below to learn more about the specific symptoms of MPS I and how they are managed.

General Physical Appearance
Nervous System
Skeletal System
Respiratory System
Auditory System
Cardiovascular System
Ocular System
Gastrointestinal System

Initial signs of MPS I

MPS I is associated with pathologic effects in most tissue types. Symptoms of MPS I show a chronic and progressive course; they are multisystemic in nature and include corneal clouding, valvular heart disease, joint stiffness, organomegaly (enlarged liver or spleen), and dysostosis multiplex (abnormally shaped bones).

0-6 months: chronic rhinitis, recurrent otitis media or "glue ear," umbilical or inguinal hernia, above normal growth and head size

6 months – 12 years: facial dysmorphisms, hepatosplenomegaly, skeletal deformities, joint stiffness, developmental delay, corneal clouding, chronic rhinitis, recurrent otitis media or "glue ear"

12+ years: corneal clouding, joint stiffness, valvular heart disease

Symptom management

Current treatment of MPS I disease is largely symptomatic. Generally speaking, supportive or symptomatic management can improve the quality of life for affected individuals and their families.