Cervical Dystonia as the Initial Symptom of IRF2BPL-related Disorder: A Case Report

Abstract Background IRF2BPL-related disorder ,also known as neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, NEDAMSS, is a rare neurogenetic disorder. It typically presents with developmental delay or seizures as the initial symptoms. This report describes a case of IRF2BPL mutation with cervical dystonia as the initial symptom and further explores the treatment strategies for movement symptoms. Case Presentation: A 17-year-old female presented with involuntary leftward head rotation and mild lower limb tremors three years ago. She was diagnosed with cervical dystonia, and after receiving botulinum toxin injections, her symptoms completely resolved. In the following three years, the patient developed worsening lower limb tremors, diagnosed as myoclonic seizures based on EEG findings, along with dysarthria and ataxia. Whole-exome sequencing confirmed the IRF2BPL mutation, and the final diagnosis was IRF2BPL-related syndrome. The patient was treated with carbamazepine, which alleviated the tremor symptoms. Conclusion The treatment of IRF2BPL-related disorder primarily focuses on seizure control, while movement symptoms, such as dystonia, significantly affect the patient's quality of life but are often overlooked. In this case, botulinum toxin effectively controlled the patient's dystonia, providing a new approach to treating movement symptoms.