What is XDP?

X-linked Dystonia Parkinsonism is an adult-onset, genetic movement disorder characterized by dystonic and parkinsonism traits.

Known locally as “Lubag” or Dystonia of Panay, XDP is a rare hereditary disease, passed on from a parent to a child. In most cases, it affects Filipino males whose maternal ancestry can be traced to the Panay region of the Philippines. This means that while XDP primarily affects more men than women, females can still be genetic carriers of the disease. Women carriers do not exhibit the signs and symptoms of XDP, but they can pass it on to their children: Every male child has a 50 percent chance of getting XDP, and every female child has a 50 percent chance of being an obligate carrier. On the other hand, fathers with XDP can pass on the gene to their daughters, but they cannot pass on the disease to their sons.

XDP is an adult-onset neurological movement disorder that first manifests when the patient is 30 to 40 years old. The disease has two main symptoms: Dystonia and Parkinsonism.

Dystonia is a neurological movement disorder where the brain has a problem sending signals to the muscles. This makes the body contract and flex involuntarily leading to uncontrollable, repetitive movements, or abnormal postures. Among the common manifestations are crooked body positions, flexed feet or knees, opened jaws with abnormal neck twisting, and bent big toes, hands and arms.

Parkinson’s is a progressive disease that is linked to the degeneration of the brain’s basal ganglia and a deficiency of the neurotransmitter dopamine. Chiefly affecting the nervous system, it is marked by slow movements with small shuffling steps, impaired speech and smaller handwriting, forward body trunk tilt, rigidity and trembling of the head and extremities, reduced arm swinging, and poor balance.

It is important to remember, however, that while these manifestation can be found in XDP patients, symptoms are highly variable, meaning that each person can express XDP differently.

While there is no current cure for XDP, there are effective ways to diagnose the disease and manage the symptoms.

At the Sunshine Care Foundation, diagnosis includes a Clinical Evaluation by neurological and movement disorder specialists, Family History mapping, and blood sample Genetic Testing to determine if a patient has XDP.

Once a patient’s condition and needs are determined, treatments such as oral medications, deep brain stimulation (DBS), and Botulinum Toxin A injections are given as available care options.

The search for the cure, however, remains the ultimate goal. Thanks to partnerships with the Massachusetts General Hospital’s Collaborative Center for XDP (CCXDP), we are beginning to piece together the genetic causes of this disease. Recent studies have identified a DNA insertion (retrotransposon) in the TAF1 gene that creates an abnormal repetitive sequence, consequently inhibiting normal TAF1 expressions. With this new discovery, medical studies are now looking for ways to normalize the TAF1 expressions in XDP patients to further manage the symptoms, or better yet, cure the disease.

Although XDP has been present for generations, the genetic disease has only begun gaining awareness in recent years. The primary cause is the endemic and geographic nature of XDP, with its high concentration of cases just in the Panay Island of the Philippines. Even cases found elsewhere in the country and in the world can trace back to a maternal ancestry in Panay.

Another, more socially-connected reason, was the lack of medical understanding of XDP within the community. For many years, the unexplained affliction was seen as a social stigma, with families hiding and confining patients to their homes out of fear of being associated with the disease. In turn, this has spurred decades of misinformation that have hampered the widespread medical knowledge of XDP.

Today, more work is being done to educate and create awareness for XDP, providing proper information and counselling to patients, families, and communities about the true nature of the diseases, and the available care, treastments, and support initiatives.

As XDP progresses, patients become more disabled, immobile, and dependent on others, especially towards the late stages. The rate of progression and manifestation of symptoms can vary from person to person, but patients often have a reduced life expectancy due to complications. To gain a better understanding of this rare disease, the SCF continues to collaborate with the CCXDP to determine the full spectrum of this disorder, so we may find better treatments and the cure.

Helpful resources

Brochures, videos, and other helpful guides.

Read
Understanding XDP: A Guide for Patients, Families and Community Members

The Sunshine Care Foundation created this illustrated brochure to provide primary information on XDP to patients and their families. It is an educational tool in introducing the causes, symptoms and treatment options of this disease to a new audience.

Download
WATCH
X-linked Dystonia Parkinsonism: Accelerating Research and Expanding Clinical Care

In this video, Christopher Stephen, MD, MCRP, talks about the natural history, symptoms, and genetics of XDP. He also discusses the various international efforts to understand and treat this neurodegenerative disease in partnership with the Collaborative Center for XDP (CCXDP) at Massachusetts General Hospital.

Watch video
VISIT
The Collaborative Center for XDP at Massachusetts General Hospital

The Collaborative Center for X-linked Dystonia-Parkinsonism (XDP) is committed to improving the lives of patients by supporting research to expand treatment options and lead to a cure.

Visit website
Read
International Congress of Parkinson’s Disease and Movement Disorders® Basic Science Abstracts (Oct 2018)

Find out more about "Dissecting molecular signatures of X-linked dystonia-parkinsonism (XDP) through integrative genomics studies" in this collection of Basic Science Abstracts.

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