Article
Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Apr 2020
Zhang Liping, Jia Yu, Qi Xiaohong, Li Mingyu, Wang Shiyu, Wang Yuping
Abstract excerpt
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder caused by mutations of ATM gene. And dystonia may develop as a late manifestation in typical AT. Here we report a novel homozygous frameshift ATM mutation (c.1402_1403delAA; p. K468Efs*18) in a 10-year-old male. The patient was diagnosed as typical AT according to clinical presentations which included progressive cerebellar ataxia,...
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