Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis

Primary outcomes

• Power Doppler [one time exam]: The primary objective is to determine whether patients with various types of MPS and at various stages of the disease exhibit abnormalities of the finger, wrist and knee joints as assessed by grey scale and Power Doppler ultrasonography.

Secondary outcomes

• Ultrasound scanning technique [one time scan]: To determine the optimal ultrasound scanning technique for MPS patients given the potentially advanced joint contractures
• Findings of synovitis or tenosynovitis [one time scan]: To determine whether there are ultrasound findings indicative of synovitis or tenosynovitis
• Differences between MPS I and IV [one time scan]: To determine whether differences exist between MPS I and MPS IV
• Differences between ERT and BMT [one time scan]: To determine whether differences exist between patients with or without Enzyme Replacement Therapy (ERT) or Bone Marrow Transplants
• Differences between severe and attenuated phenotypes [one time scan]: To determine whether differences exist between severe and attenuated phenotypes

Sex: All, ages: 2 Years to 99 Years

Inclusion Criteria

* Diagnosis of Mucopolysaccharidosis
* Ability to collaborate with the ultrasound assessment
* Written informed consent from parents and patients over 14 years of age, assent from children 7 to 14 years

Exclusion Criteria

* Inability to collaborate with the ultrasound assessment
* Acute trauma to a joint that will be assessed in the 3 months preceding the study
* Coexistence of other pathology that is known to affect the respective joints

• Johannes Roth, MD, Principal investigator, Children's Hospital of Eastern Ontario