X-Linked Dystonia Parkinsonism or XDP is an adult-onset, genetic movement disorder which primarily affects males of Filipino descent especially those with ancestry from the Visayas region of the Philippines. It is characterized by dystonic and parkinsonian traits. Dystonia is a neurological movement disorder where muscles contract involuntarily resulting in uncontrollable, repetitive movements or abnormal postures. Parkinsonian traits, on the other hand, manifest in symptoms such as slow movements, lack of facial expression, and tremors.
WHAT CAUSES XDP?
XDP is caused by a genetic mutation that can be passed down from parent to child. The exact mutation has not yet been identified, but researchers have narrowed it down to a stretch of DNA on the X chromosome. The X chromosome helps determine whether a person is male or female. Since the mutation is found on the X-chromosome, XDP is called a sex-linked or X-linked disease. The location of the mutation is significant because it means males will be the ones most often affected by XDP, while females will carry the mutation without exhibiting symptoms. Women who carry the mutation on one X chromosome have a 50% chance of passing down the mutation to their sons and daughters. The sons will develop XDP, while the daughters will become carriers of the mutation. Men who carry the mutation and therefore have XDP will produce healthy sons and carrier daughters. The fact that women can act as carriers without exhibiting symptoms leads to the mutation persisting in a population. Click here for more information on genetic mutations.
RESEARCH FOR A CURE
The Sunshine Care Foundation is focused on finding a cure for XDP. For this reason, we currently fund several scientists around the world through the Collaborative Center for X-Linked Dystonia Parkinsonism at the Massachusetts General Hospital (CCXDP). Scientists affiliated with CCXDP are working hard at finding the cure every day. Patients who would like to participate in our research may join our large family pedigree studies and donate blood so that we can better the genetics behind XDP. Because XDP is a disease that affects the brain, patients may also choose to donate their brains to science after they die so that we may accelerate finding the cure.
At this time, there is still no known cure for XDP. Oral medications (such as anticholinergics), only address the symptoms. Generally, such treatments work for some patients but not for others as patients respond differently to medications. It is important to remember that all medications have side effects. More invasive treatments that a patient may choose to have include botulinum toxin injections and brain surgery called Deep Brain Stimulation (DBS).
The Sunshine Care Foundation provides additional support to families and patients in need including genetic counseling, psychological counseling, spiritual counseling, physical therapy, nutritional guidance, organic farming, and livelihood projects. For more information regarding these services, please contact us at the numbers or email address below.