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Hardly any imaging studies specifically addressing the articular and periarticular structures in MPS patients are available at this point. The investigators propose to do for the first time a pilot study using musculoskeletal ultrasound in patients with various types of MPS.
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| Measure | Description | Time Frame |
|---|---|---|
| Power Doppler | 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. | one time exam |
| Measure | Description | Time Frame |
|---|---|---|
| Ultrasound scanning technique | To determine the optimal ultrasound scanning technique for MPS patients given the potentially advanced joint contractures | one time scan |
| Findings of synovitis or tenosynovitis |
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Inclusion Criteria
Exclusion Criteria
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Patients with MPS I and IV
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| Name | Affiliation | Role |
|---|---|---|
| Johannes Roth, MD | Children's Hospital of Eastern Ontario | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Hospital of Eastern Ontario | Ottawa | Ontario | K1H8L1 | Canada |
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| ID | Term |
|---|---|
| D009085 | Mucopolysaccharidosis IV |
| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
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To determine whether there are ultrasound findings indicative of synovitis or tenosynovitis
| one time scan |
| Differences between MPS I and IV | To determine whether differences exist between MPS I and MPS IV | one time scan |
| Differences between ERT and BMT | To determine whether differences exist between patients with or without Enzyme Replacement Therapy (ERT) or Bone Marrow Transplants | one time scan |
| Differences between severe and attenuated phenotypes | To determine whether differences exist between severe and attenuated phenotypes | one time scan |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |