For Physicians
What is X-linked Dystonia-Parkinsonism (XDP)?
X-Linked Dystonia Parkinsonism, also called Lubag or DYT3 dystonia, primarily affects men with Filipino ancestry from the Island of Panay. XDP is an inherited neurodegenerative movement disorder that changes over the course of many years, resulting in significant disability. Beginning in adulthood, people with XDP experience movement problems, called dystonia or parkinsonism. Dystonia is a pattern of involuntary, continuous muscle cramping and spasm. Depending on which muscles are affected, dystonia can cause difficulty with speaking, swallowing, coordination, and walking. Parkinsonism is a group of movement difficulties including tremors, slow movements, stiffness, unsteadiness and a shuffling gait. The signs and symptoms of dystonia and/or parkinsonism vary widely between related and unrelated people.
What causes XDP?
XDP is caused by a genetic mutation that can be passed down from parent to child. Recent CCXDP-funded research studies have shown that XDP is most likely caused by a DNA insertion (retrotransposon) in a gene called TAF1. The DNA insertion contains a repetitive sequence, the length of which can vary among patients. The longer repeat sequences can lead to an earlier age of disease onset. One consequence of the insertion is a decrease in TAF1 gene expression.
Where is Panay Island?
Panay is one island in the Philippines, which is in southeast Asia. The Philippines has a population of roughly 100 million and is made up of over 7,000 islands. Panay is part of a group of islands called the Visayas in the central part of the Philippines. Panay is divided into five provinces; Aklan, Antique, Capiz, Iloilo and Guimaras (a small island off Panay).
There are more than 12 million people of Filipino descent who live overseas in many countries around the world, including the United States.
Is Genetic Testing Available?
Genetic testing for XDP is available, and the MGH Dystonia Clinic provides genetic counseling to patients who may be considering this option. Trisha Multhaupt-Buell, MS, LCGC, is a genetic counselor specializing in hereditary forms of dystonia, including XDP. She works with patients who may be contemplating genetic testing for XDP to explain the options and assist them in determining if testing is appropriate for them. Please contact Ms. Multhaupt-Buell at tmulthaupt-buell@mgh.harvard.edu for additional information.
Patient Referrals to the Mass General Dystonia Clinic
Movement disorders can sometimes be very difficult to diagnose. Many patients come to the neurology department at Massachusetts General Hospital for additional diagnostic evaluations after seeing neurologists outside of the hospital.
Upon visiting the Dystonia Clinic, new patients undergo a comprehensive evaluation that can include a thorough clinical assessment, laboratory testing, cognitive evaluation and brain imaging. These capabilities—along with the experience and expertise of our on-staff neurologists—allow us to make quick and accurate diagnoses.
Once we have established the diagnosis, we are happy to provide ongoing care at our clinic or in collaboration with the patient's primary care physician or neurologist. In addition, we can make referrals to other specialists at Mass General for further testing or treatment when appropriate.
To refer a patient to the Dystonia Clinic at Mass General, please call 617-643-2083, or visit the Dystonia Clinic website.
Research Study Enrollment
The Center supports ongoing research studies in dystonia. If you have a patient with X-linked dystonia-parkinsonism (XDP) or another form of dystonia who might be interested in participating please contact our Program Manager and Genetic Counselor, Trisha Multhaupt-Buell, by email at DystoniaResearch@partners.org or share our brochure linked below.
Please note: We do not give results as part of the research study. If a research participant has symptoms for which clinical genetic testing is recommended, Trisha Multhaupt-Buell, MS, CGC, can help facilitate that.
Training Opportunities
The Center for XDP supports training opportunities at Mass General or in the Philippines for clinicians interested in learning about the care and treatment of XDP and other forms of dystonia. For more information, please contact Amy Alessi, PhD at xdp@mgb.org.
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