6th Edition of Neurology World Conference 2026

Abstract

Abstract X-linked dystonia-parkinsonism (XDP) is a rare, adult-onset, progressive neurodegenerative movement disorder predominantly affecting males of Filipino descent with an estimated prevalence of 1 in 322,000. A 30-year-old Filipino male presented with a two month history of progressively worsening left-sided cervical dystonia, characterized by twisting, pulling sensations, and aching pain. Physical examination revealed left-sided torticollis, asymmetric dystonic thoracic extension, and mild parkinsonian features including lead-pipe rigidity, bradykinesia, and a low- amplitude postural tremor. The patient was clinically diagnosed with XDP based on clinical findings and a strong maternal family history pending genetic testing result. He was treated with targeted botulinum toxin type A (BoNT-A) injections into the involved neck muscles. Two weeks post-injection, the patient experienced a significant reduction in the frequency and severity of spasms, improved head control, smoother gait, and reduced pain. Timely identification of rare neurodegenerative disorders like XDP reduces diagnostic delays and allows for prompt specialist referral and effective symptomatic treatments like BoNT-A or DBS, effectively reducing patient disability. This case highlights the importance of early recognition of atypical movement disorders among first-contact physicians which enables targeted interventions that significantly improve the patient's quality of life.