Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atlantoaxial instability is a relatively frequent finding in Down syndrome, but syringomyelia is a rare symptom. A four-year-old girl with Down syndrome was noted to have one year history of torticollis and progressive motor deterioration presenting with abnormal gait, ataxia or quadriparesis for the past three months. She was admitted because of acute urinary retention. Physical examination showed distended urinary bladder, hyperreflexia, bilateral ankle clonus and the existence of Babinski's signs. The x-ray films of the cervical spine showed widening between the joint space of atlas and odontoid processes. Magnetic resonance imaging revealed C1-C2 subluxation with syringomyelia. After bladder training and cervical orthosis, the symptoms improved.
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PMID:Atlantoaxial subluxation and syringomyelia in Down syndrome: report of one case. 130 27