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Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report.

Abstract

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, oculocutaneous telangiectasia, immune deficiency, and cerebellar atrophy. The genetic finding confirmed the diagnosis. Severe dystonia was presented in late stage of this disease. After 3 months of trihexyphenidyl treatment, the frequency of dystonia was reduced significantly. Although dystonia is not uncommon in phenotype spectrum of AT, compared with other symptoms of this syndrome, such as cerebellar ataxia and dysarthria, dystonia can be treated.

Authors+Show Affiliations

Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing, China.Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing, China.Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing, China.Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China. mdwangyp@sina.cn.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31691010

Citation

Zhang, Liping, et al. "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, 2019.
Zhang L, Jia Y, Qi X, et al. Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. Childs Nerv Syst. 2019.
Zhang, L., Jia, Y., Qi, X., Li, M., Wang, S., & Wang, Y. (2019). 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, doi:10.1007/s00381-019-04399-3.
Zhang L, et al. Trihexyphenidyl for Treatment of Dystonia in Ataxia Telangiectasia: a Case Report. Childs Nerv Syst. 2019 Nov 5; PubMed PMID: 31691010.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. AU - Zhang,Liping, AU - Jia,Yu, AU - Qi,Xiaohong, AU - Li,Mingyu, AU - Wang,Shiyu, AU - Wang,Yuping, Y1 - 2019/11/05/ PY - 2019/07/12/received PY - 2019/09/27/accepted PY - 2019/11/7/entrez KW - Ataxia telangiectasia KW - Dystonia KW - Trihexyphenidyl JF - Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery JO - Childs Nerv Syst N2 - 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, oculocutaneous telangiectasia, immune deficiency, and cerebellar atrophy. The genetic finding confirmed the diagnosis. Severe dystonia was presented in late stage of this disease. After 3 months of trihexyphenidyl treatment, the frequency of dystonia was reduced significantly. Although dystonia is not uncommon in phenotype spectrum of AT, compared with other symptoms of this syndrome, such as cerebellar ataxia and dysarthria, dystonia can be treated. SN - 1433-0350 UR - https://www.unboundmedicine.com/medline/citation/31691010/Trihexyphenidyl_for_treatment_of_dystonia_in_ataxia_telangiectasia:_a_case_report L2 - https://dx.doi.org/10.1007/s00381-019-04399-3 DB - PRIME DP - Unbound Medicine ER -