Clinical Presentation of KMT2B-Related Dystonia: A Case Report

This case presents an eight-year-old boy who visited the clinic with complaints of worsening gait and dystonic movements. The patient had asymmetric spasticity in all extremities, which was more pronounced on the right side. The diagnosis of KMT2B-related dystonia was made. KMT2B-related dystonia is a generalized dystonia of childhood-onset that typically begins in the lower limbs, gradually progressing upward and leading to generalized dystonia. The patient had prominent, involuntary hand movements, mainly on the right side, and difficulties with fine motor function. These symptoms severely impacted his ability to engage in routine tasks and daily activities. Currently, he is undergoing multidisciplinary rehabilitation treatment at the Neurodevelopment Center to enhance his functional abilities and participation and to improve his overall quality of life. Given its relative rarity in clinical practice, this case underscores the importance of early recognition and thorough documentation of KMT2B-related dystonia. By increasing awareness of this condition, healthcare providers can facilitate timely diagnosis and implement more effective treatment strategies. Early intervention can significantly improve outcomes and support children with this challenging disorder in leading fulfilling lives.