Dystonic tremor and blepharospasm in a patient with deletion of 18q

Clinical neurology and neurosurgery(2023)

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摘要
18q- Syndrome is a rare chromosomic syndrome where neurological involvement is scarcely described. Movement disorders are rare and only one case with dystonia was described. In our paper, we describe the second report of a patient with 18q- Syndrome, blepharospasm, and dystonic tremor of his right hand and hyperthyroidism instead of hypothyroidism.
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ENT,BMI,Array-CGH,QFQ,OMIN
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