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In 48 patients with AT,who were the index cases in their respective families,the median age of diagnosis(78 months)occurred after the onset of gait abnormalities(15 months)and closely corresponded to the development of telangiectasia(72 months).In the majority of the cases(34/48) telangectais appeared before the diagnosis was established.The most common nondiagnosis was cerebral palsy.Twenty-one children were both after the start of symptoms in the index case,but before the establishment of diagnosis.The term AT,although a concise and memorable label for the disorder,is also a barrier to early diagnosis.We recommend the use of routine serum alpha-fetoprotein testing for all children with persistent ataxia. |
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