What are the signs and symptoms of atlantoaxial instability in Down syndrome?

Updated: Apr 30, 2018
  • Author: Gratias Tom Mundakel, MBBS, DCH; Chief Editor: Maria Descartes, MD  more...
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Answer

Symptoms of atlantoaxial instability include the following:

  • About 13-14% of patients have radiographic evidence of atlantoaxial instability but no symptoms

  • Only 1-2% of patients have symptoms that require treatment

  • Symptoms include easy fatigability, neck pain, limited neck mobility or head tilt, torticollis, difficulty walking, change in gait pattern, loss of motor skills, incoordination, clumsiness, sensory deficits, spasticity, hyperreflexia, clonus, extensor-plantar reflex, loss of upper-body strength, abnormal neurologic reflexes, change in bowel and bladder function, increased muscle tone in the legs, and changes in sensation in the hands and feet

  • These symptoms often remain relatively stable for months or years

  • In rare cases, the symptoms progress to paraplegia, hemiplegia, quadriplegia, or death


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