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X-Linked Dystonia-Parkinsonism

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X-Linked Dystonia-Parkinsonism X-Linked Dystonia-Parkinsonism “LUBAG” X-linked dystonia-parkinsonism • Males with XDP pass the disease- (XDP) is a genetic form of dystonia causing gene mutations to all of that affects men of Filipino descent their daughters but not to their sons. almost exclusively. The disorder is • Women who are carriers have a also known as lubag based on the 50% chance of transmitting the Ilonggo term referring to muscle mutation in each pregnancy. twisting and spasms. It is a progres- • Males who inherit the mutation sive, neurodegenerative disorder. from their mothers will develop Although there is no cure at this XDP; females who inherit the time, treatments are available and mutation will be carriers and researchers are actively pursuing only rarely have symptoms. new and improved therapies. • Genetic counseling is recom- mended for affected individuals Symptoms and families to provide guidance • XDP affects primarily Filipino for genetic testing and identify men and, very rarely, women. family members who may be at • Symptoms may occur as early risk of developing XDP. as adolescence or as late as the mid-70s. Diagnosis • The earliest symptoms are usually • XDP is diagnosed by observance parkinsonian, including resting of dystonia and parkinsonism tremor, bradykinesia (slowness of symptoms, family history with movement), rigidity, poor balance, x-linked mode of inheritance, and a shuffling gait. genetic testing, and ancestral • Symptoms of dystonia develop roots from the Panay Island in later in the limbs, tongue, pharynx, and/or larynx, the Philippines. with the most common being jaw dystonia that progresses to cervical dystonia (affecting the neck Treatment and shoulders). • Treatment for XDP involves using medications to • Neuroimaging studies may reveal neurodegenerative address both dystonia and parkinsonism. changes associated with parkinsonism in an area of • Anticholinergic medications, benzodiazepines, and the brain called the basal ganglia. sometimes neuroleptics are used in the early stages of dystonia. Zolpidem and tetrabenazine may be used Genetics to treat more advanced dystonia symptoms. • XDP is a genetic disorder inherited in an x-linked • Botulinum neurotoxin injections may improve dystonia manner. in the neck and shoulders, eyelids and brow, tongue • XDP is associated with mutations in and around the dystonia, or jaw dystonia but may worsen swallowing DYT3/TAF1 gene. in individuals with dysphagia (difficulty swallowing). • Parkinsonism symptoms may be treated with levodopa Support and dopamine agonist medications to control tremor. Individuals and families affected by XDP are strongly • Deep brain stimulation (DBS) surgery may be an encouraged to: important option in individuals with severe, advanced • Seek out the best medical care, including a multi- XDP responding poorly to less invasive treatments. disciplinary movement disorders team and genetic counselor. Prevention of Complications • Learn as much as possible about XDP and • Symptoms such as difficulty swallowing and dystonia treatment options. affecting the pharynx make certain individuals with • Use a multi-layered support system of support XDP vulnerable to serious complications such as groups, online resources, friends, family, and mental aspiration pneumonia and recurrent infections. Part health professionals, if needed. of treatment for these individuals should include • Investigate complementary therapies. swallowing therapy and diet modification. • Participate in the XDP and dystonia community. • Physical therapy may help preserve mobility and delay disability associated with movement symptoms. MORE INFORMATION: Dystonia Medical Research Foundation (DMRF) One East Wacker Drive, Suite 1730 Chicago, Illinois 60601-1905 Toll free: 800-377-DYST (3978) Phone: 312-755-0198 Email: [email protected] Web: http://www.dystonia-foundation.org Find the DMRF on Facebook, Twitter, and YouTube. © Dystonia Medical Research Foundation 2016 .
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