Motor, Postural, and Communicative Phenotype in SHQ1-Related Neurodevelopmental Disorder with Dystonia and Seizures: An Interdisciplinary Case Report and Hypothesis-Generating Physiotherapy Framework

Artur Polczyk, Natalia Banaszek-Hurła, Ewelina Wolańska, Joanna Wawrzyniak, Natalia Purpurowicz-Miękus, Anna Winczewska-Wiktor +2 more

Background: Biallelic variants in SHQ1 (SHQ1 homolog; H/ACA small nucleolar ribonucleoprotein assembly factor) cause neurodevelopmental disorder with dystonia and seizures (NEDDS), but descriptions of spontaneous motor organization, functional communication, and rehabilitation-relevant abilities remain limited. Case: We present a boy with infantile-onset epileptic encephalopathy, dystonia, cerebellar atrophy, and…