THAP1; Generalised Dystonia; Inherited Movement Disorders; DYT-THAP1; Dyspraxia
Abstract :
[en] A progressive motor disorder in an 11-year-old child, initially interpreted as dyspraxia and dysgraphia, was later identified as task-specific dystonia evolving into generalised dystonia with brachiocranial predominance. Genetic testing revealed a de novo heterozygous variant in THAP1, confirming DYT-THAP1. This case highlights the challenge of recognising dystonia in children and the importance of early referral to specialised centres.
Disciplines :
Neurology Pediatrics Laboratory medicine & medical technology
Author, co-author :
Aktan, David ; Université de Liège - ULiège > GIGA ; Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie
Mouraux, Charlotte ; Université de Liège - ULiège > GIGA > GIGA Cancer - Human Genetics
Depierreux, Frédérique ; Université de Liège - ULiège > Département des sciences cliniques ; Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie
Language :
English
Title :
Rethinking dyspraxia diagnoses in children
Alternative titles :
[fr] Réévaluer les diagnostics de dyspraxie chez l'enfant
Publication date :
28 November 2025
Event name :
Advances in pediatric neurogenetics: the future is today
Event organizer :
Belgian Society of Pediatric Neurology - BPSN Autumn Meeting Dr Christophe Barrea
