How Does Down Syndrome Affect Musculoskeletal Health?

Our case illustrates the potential severity of this condition when not addressed in a conventional manner with timely introduction of DMARD therapy and, if necessary, biologic agents.

Conclusion

Down syndrome is a common genetic disease, affecting various systems of the body, including the musculoskeletal system. It mainly causes low bone density, joint instability and the less-documented arthropathy. The presentation of these pathologies might differ between cases, but with early suspicion and specific diagnostic tests, patients can have significantly less debilitating conditions. The purpose of reporting these children is to increase awareness of the association between trisomy 21 and arthropathies, along with other musculoskeletal disorders. Further investigation of this association may give clues to the relationship between genetic and immunologic factors in the pathogenesis of joint inflammation along with other musculoskeletal abnormalities and is highly encouraged.

Prasanna Bastola, MBBS, is research fellow at Dartmouth Hitchcock Medical Center in the Department of Pediatric Rheumatology. She obtained her MBBS degree from Manipal College of Medical Sciences, Nepal, and is aspiring to become a pediatrician in the U.S.

Daniel A. Albert, MD, is a rheumatologist at Dartmouth Hitchcock Medical Center and a professor of medicine and pediatrics at Geisel School of Medicine at Dartmouth and the Dartmouth Institute. Dr. Albert sees both adults and children with rheumatic disease, and his main areas of focus are RA and vasculitis.

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