Information for Physiotherapists
MPS I can affect many different organ systems and patients generally see several specialists before getting a diagnosis. Because skeletal and joint involvement is typical, patients may be referred to a physiotherapist to help relieve symptoms and improve function. Below are presenting symptoms observed by physiotherapists that may lead to clinical suspicion of MPS I and warrant more definitive testing.
Joint manifestations are among the most significant disability and discomfort for patients with MPS I. Almost all patients experience progressive arthropathy affecting all joints, and eventually leading to the loss of (or severe restriction of) range of motion. This can be the first disease manifestation to be noticed in MPS I patients.
Joint RestrictionCredit: Courtesy of E. Kakkis, MD
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