FOR CANADIAN RESIDENTS ONLY
MPS I Disease
MPS I disease is a rare, inherited, genetic disorder caused by a deficiency in an enzyme called alpha-L-iduronidase. MPS I occurs in about 1 in every 100,000 births globally. Patients with MPS I disease can experience a wide range of symptoms with variable degrees of severity. If you suspect MPS I disease, get tested.
Use this checklist to prompt a discussion with your physician.
A dry blood spot test and/or genetic testing can help early detection of MPS I disease
Possible Symptoms of MPS I Disease
Carpal tunnel syndrome
Carpal tunnel syndrome is a condition that causes pain, numbness, and tingling in the hands and arms. This may cause nerve damage and challenges grasping objects.
Heart disease
Some types of heart problems that occur include: a weakened heart muscle, stiffened and scarred heart, and coronary artery disease. Patients living with MPS I disease may also develop problems with their heart valves.
Obstructive Sleep Apnea
Obstructive sleep apnea is a potentially serious sleep disorder that causes the muscles in the throat to relax and block the airway during sleep, which causes breathing to repeatedly stop and start.
Skeletal problems
Skeletal problems can include problems with growth and bone formation, including abnormally-shaped bones. The spine can also be affected, including spinal deformities such as scoliosis and a poorly-formed spine.
Stiffened joints
Stiffness of joints may cause pain and limited range of movement and may create challenges with dressing and other activities.
Upper airway infections
Upper airway infections include bacterial infections that occur in the middle area of the ear and sinuses.
Resources
Health information contained herein is provided for general educational purposes only. Your healthcare professional is the single best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.