Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia.

CONCLUSION: Mutations in the ATM gene show a wide phenotypic spectrum from severe classical early-onset ataxia-telangiectasia (A-T) to late-onset milder variant A-T. Our findings highlight the importance of recognizing laryngeal dystonia as one of the clinical signs of A-T. PMID: 32558426 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/32558426?dopt=Abstract

Source: The Turkish Journal of Pediatrics - June 20, 2020 Category: Pediatrics Authors: Arıcan P, Dündar NO, Kırbıyık Ö, Çavusoğlu D, Yılmaz SB, Gençpınar P Tags: Turk J Pediatr Source Type: research