Abstract
Cervical dystonia is an uncommon but significant manifestation of Gaucher disease type 3, where abnormal neck postures are often reported without detailed characterisation. We describe two brothers with genetically confirmed disease who developed severe retrocaput in early childhood, causing major gait, balance, and social difficulties. Both showed typical neurological signs, including supranuclear gaze palsy, parkinsonian features, and pyramidal involvement; one also had juvenile myoclonic epilepsy. Due to severe dystonia, botulinum toxin injections were performed under ultrasound and electromyography guidance with light sedation. Both improved clearly and durably, underscoring the need to recognise treatable dystonia in this condition.