Dystonia in ataxia telangiectasia : a case report with novel mutations
Joint Authors
Agha Muhammadi, Asghar
Zaki Dizaji, Majid
Tajdini, Muhammad
Kiaee, Fatimah
Shuja al-Dini, Husayn
Badv, Reza Shervin
Abu al-Hasani, Hasan
Source
Issue
Vol. 35, Issue 1 (31 Jan. 2020)7 p.
Publisher
Publication Date
2020-01-31
Country of Publication
Oman
No. of Pages
7
Main Subjects
Topics
Abstract EN
ataxia telangiectasia (a-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency.
There is vast phenotype variation in patients with a-T and recently, dystonia, an extrapyramidal movement disorder.
Here, we report the case of a 10-year-old girl who had experienced repeated diarrhea and mild gait ataxia since the age of two years.
at age seven, ataxia and ocular telangiectasia were evident and immunoglobulin level assessment showed hyper Igm immune phenotype, thus a diagnosis of a-T was made based on clinical and laboratory findings, and she was started on intravenous immunoglobulin therapy.
Generalized dystonia appeared when she was 10-years-old.
molecular analysis revealed two heterozygous mutations, c.6259delG and c.6658C>T, in the ATM gene of which one (c.6259delG) is novel.
dystonia can be part of the clinical picture in the a-T disorder and may even mask ataxia.
This should be considered as a major feature mainly in variant a-T, which may occur without general ataxia and may be misdiagnosed in adults with primary dystonia.
American Psychological Association (APA)
Zaki Dizaji, Majid& Tajdini, Muhammad& Kiaee, Fatimah& Shuja al-Dini, Husayn& Badv, Reza Shervin& Abu al-Hasani, Hasan…[et al.]. 2020. Dystonia in ataxia telangiectasia : a case report with novel mutations. Oman Medical Journal،Vol. 35, no. 1.
https://search.emarefa.net/detail/BIM-955479
Modern Language Association (MLA)
Zaki Dizaji, Majid…[et al.]. Dystonia in ataxia telangiectasia : a case report with novel mutations. Oman Medical Journal Vol. 35, no. 1 (Jan. 2020).
https://search.emarefa.net/detail/BIM-955479
American Medical Association (AMA)
Zaki Dizaji, Majid& Tajdini, Muhammad& Kiaee, Fatimah& Shuja al-Dini, Husayn& Badv, Reza Shervin& Abu al-Hasani, Hasan…[et al.]. Dystonia in ataxia telangiectasia : a case report with novel mutations. Oman Medical Journal. 2020. Vol. 35, no. 1.
https://search.emarefa.net/detail/BIM-955479
Data Type
Journal Articles
Language
English
Record ID
BIM-955479