Musculoskeletal Conditions Associated with Down Syndrome

Persons with Down syndrome are at high risk for musculoskeletal abnormalities, including ligamentous laxity and atlantoaxial instability. In the latter, excess mobility of the articulation of C1 (atlas) and C2 (axis) occurs. Fifteen percent of individuals with DS develop atlantoaxial instability. Of these 1-2% will develop subluxation and cord compression in this area. Overt symptoms of atlantoaxial instability include: brisk deep-tendon reflexes; gait disturbance; neck discomfort or pain; ankle clonus; positive Babinski sign; muscle weakness; or increased muscle tone. Atlantoaxial instability may also exist in an asymptomatic form.

Clinicians should note that there is a higher incidence of individuals developing atlantoaxial instability during the rapid growth of adolescence. Cervical evaluation via x-ray is thus in order. Patients (and parents of children) exhibiting clinical (with or without neurological symptoms) atlantoaxial instability should be counseled to avoid contact sports, diving, trampoline exercises and/or other activities which may place undue stress on the neck area. Occasionally surgical stabilization of the atlas and axis may be required to prevent neurological compromise from spinal cord compression.

Pueschel, S.M. and Sustrova, M. (1997). Selected medical conditions. In S.M. Pueschel & M. Sustrova (Eds.), Adolescents with Down syndrome: Toward a more fulfilling life (pp52-53). Baltimore, MD: Paul Brookes Publishing.