Lubag Syndrome (X-linked Dystonia Parkinsonism) Case Study of Mr G. Infante

Sex-linked dystonia parkinsonism (XDP) also known as Lubag Syndrome is a rare sex-linked genetic progressive movement disorder affecting almost exclusively males from the province of Capiz in the Philippines and their descendants. At the Mater Centre for Neurosciences we have recently treated two patients with XDP utilising Deep Brain Stimulation (DBS) implants. Mr G. Infante was the second patient to be treated, the first being his uncle. Mr G. Infante’s case was brought to the attention of the Mater Centre for Neurosciences at South Brisbane after the success of his uncle’s treatment two years prior.

In the three years from when Mr G. Infante’s dystonia symptoms were first noticed, his condition progressively worsened until he was wheelchair bound. With severe chronic pain, unable to walk, difficulties talking and swallowing, Mr G’s quality of life was severely impacted by XDP.

XDP is a movement disorder considered a variation to Parkinson’s Disease. The difference being that the XDP starts with a long period of dystonia that eventually evolves into the tremor and associated symptoms typical of Parkinson’s Disease. Due to the similarity of the conditions the patient’s needs and treatment methods, both medical and surgical, are almost identical. Deep brain stimulation surgery involves implantation of electrodes into specific regions of the brain. The electrodes are then used to deliver finely tuned electrical currents in order to reduce the signs and symptoms of both neuropsychiatric and movement disorders such as Parkinson’s and XDP. The high frequency electrical charges sent to deep structures in the brain stimulate or shut down nerve cells around the electrode. The areas of the brain that the electrodes target are thought to participate in the circuitry involved and effectively disrupts these processes and reduces the symptoms of the disease.

This paper presents the journey of Mr G. Infante’s XDP and DBS and provides an explanation of how DBS works to improve the quality of life for patients who suffer from XDP.