X-linked dystonia-parkinsonism (XDP) is one of the genetic causes of generalized dystonia. Both dystonia and parkinsonism components of the disease are frequently resistant to pharmacologic treatment. Deep brain stimulation (DBS) of the globus pallidus pars interna (GPi) is an effective treatment modality, especially for dystonic manifestations of XDP. The subthalamic nucleus (STN) is a known DBS target in Parkinson disease but it is less frequently used for treatment of dystonia. In our case report we describe a patient with XDP who underwent bilateral STN DBS with notable improvement in parkinsonism and dystonia.

Our patient is a right-handed Filipino man from the island of Panay. He developed bilateral parkinsonism, blepharospasm, oromandibular and cervical dystonia at the age of 51. Diagnosis of XDP was confirmed with genetic testing.

Marked improvement of Unified Parkinson Disease Rating Scale (UPDRS) motor score in response to levodopa administration was demonstrated (65 off and 36 on). His pre-DBS Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) was 27.5.

Bilateral GPi were initially selected as a target for DBS lead placement based on previously published data. Surgical target was subsequently changed to bilateral STN due to distortion in GPi anatomy likely secondary to long-standing disease. Medtronic Percept PC neurostimulator with Sensight DBS leads were used.

There was no surgical complications. Patient had an immediate improvement in tremor, bradykinesia and rigidity after his first programming visit; antidystonic effects of stimulation became evident over the next few weeks. There was substantial improvement in limb and oromandibular dystonia and mild effect on cervical dystonia and blepharospasm. His speech clarity became better as well. His motor UPDRS and BFMDRS decreased to 21 and 19, respectively. Gait, posture, ability to perform activities of daily living significantly improved.