X-linked dystonia-parkinsonism

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ORPHA:53351OMIM:314250G24.1
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16Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

X-linked dystonia-parkinsonism (XDP) is a rare and serious brain movement disorder that affects almost exclusively men from the Philippines, particularly those with ancestry from the island of Panay. It is also known by several other names, including 'Lubag,' which is the local Filipino term for the condition, and 'DYT3.' The disease causes two main types of movement problems: dystonia, which means involuntary muscle contractions that twist or pull the body into abnormal positions, and parkinsonism, which includes slowness of movement, stiffness, and tremors similar to Parkinson's disease. Most men with XDP first notice symptoms in their 30s or 40s, though the age can vary. The disease starts in the brain in an area called the striatum, where nerve cells gradually break down over time. Early on, dystonia is usually the main problem, often starting in one part of the body like the jaw, neck, or a limb, and then spreading. Over years, parkinsonism features tend to become more prominent as the dystonia may lessen somewhat. There is currently no cure for XDP. Treatment focuses on managing symptoms and improving quality of life. Medications used for Parkinson's disease, such as levodopa, can help some patients. Botulinum toxin injections can ease localized dystonia. Deep brain stimulation (DBS) surgery has shown meaningful benefit for some patients and is one of the most promising current treatment options. Research into gene therapy and disease-modifying treatments is actively ongoing.

Also known as:

Key symptoms:

Involuntary muscle twisting or cramping (dystonia)Slowness of movement (bradykinesia)Muscle stiffness and rigidityTremors or shakingDifficulty walking or abnormal gaitJaw or face muscle spasmsNeck pulling to one side (cervical dystonia)Difficulty speaking or swallowingLoss of balanceReduced facial expressionDifficulty with fine motor tasks like writing or buttoning clothesFatigue and reduced staminaDepression and emotional changes

Clinical phenotype terms (19)— hover any for plain English
Torsion dystoniaHP:0001304Resting tremorHP:0002322Shuffling gaitHP:0002362Parkinsonism with favorable response to dopaminergic medicationHP:0002548Focal dystoniaHP:0004373Progressive extrapyramidal muscular rigidityHP:0007158Laryngeal stridorHP:0006511Protruding tongueHP:0010808Aspiration pneumoniaHP:0011951Impaired oropharyngeal swallow responseHP:0031162
Inheritance

X-linked recessive

Carried on the X chromosome; typically affects males more than females

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for X-linked dystonia-parkinsonism.

View clinical trials →

No actively recruiting trials found for X-linked dystonia-parkinsonism at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the X-linked dystonia-parkinsonism community →

Specialists

16 foundView all specialists →
CR
Charles Jourdan Reyes
Specialist
4 X-linked dystonia-parkinsonism publications
PA
Patrick Acuna
Specialist
4 X-linked dystonia-parkinsonism publications
BL
Björn-Hergen Laabs
Specialist
4 X-linked dystonia-parkinsonism publications
JP
Jelena Pozojevic
Specialist
4 X-linked dystonia-parkinsonism publications
JG
Jan K de Guzman
PLEASANTON, CA
Specialist
4 X-linked dystonia-parkinsonism publications
AW
Ana Westenberger
Specialist
10 X-linked dystonia-parkinsonism publications
DB
D Cristopher Bragg
Specialist
9 X-linked dystonia-parkinsonism publications
NS
Nutan Sharma
BOSTON, MA
Specialist
8 X-linked dystonia-parkinsonism publications
CD
Cid Czarina E Diesta
Specialist
8 X-linked dystonia-parkinsonism publications
NB
Norbert Brüggemann
Specialist
7 X-linked dystonia-parkinsonism publications
RR
Raymond L Rosales
SAN ANTONIO, TX
Specialist
6 X-linked dystonia-parkinsonism publications
EP
Ellen B Penney
BOSTON, MA
Specialist
6 X-linked dystonia-parkinsonism publications
CG
Criscely Go
Specialist
5 X-linked dystonia-parkinsonism publications
RJ
Roland Dominic G Jamora
Specialist
5 X-linked dystonia-parkinsonism publications
CM
Criscely L Go, MD,FPNA,DPBP
Specialist
PI on 1 active trial
CF
Cara Fernandez-Cerado
Specialist
5 X-linked dystonia-parkinsonism publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to X-linked dystonia-parkinsonism.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about X-linked dystonia-parkinsonism

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.What stage is my disease at, and what changes should I expect in the coming years?,Am I a good candidate for deep brain stimulation surgery, and where can I be evaluated for it?,Which medications are most likely to help my specific symptoms — the dystonia, the stiffness, or both?,Should my family members be tested for the XDP gene change, and what does a positive result mean for them?,Are there any clinical trials or research studies I could participate in?,What therapies — physical, occupational, or speech — should I start now to protect my function?,What support resources are available for me and my family, including mental health support?

Common questions about X-linked dystonia-parkinsonism

What is X-linked dystonia-parkinsonism?

X-linked dystonia-parkinsonism (XDP) is a rare and serious brain movement disorder that affects almost exclusively men from the Philippines, particularly those with ancestry from the island of Panay. It is also known by several other names, including 'Lubag,' which is the local Filipino term for the condition, and 'DYT3.' The disease causes two main types of movement problems: dystonia, which means involuntary muscle contractions that twist or pull the body into abnormal positions, and parkinsonism, which includes slowness of movement, stiffness, and tremors similar to Parkinson's disease. Mos

How is X-linked dystonia-parkinsonism inherited?

X-linked dystonia-parkinsonism follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does X-linked dystonia-parkinsonism typically begin?

Typical onset of X-linked dystonia-parkinsonism is adult. Age of onset can vary across affected individuals.

Which specialists treat X-linked dystonia-parkinsonism?

16 specialists and care centers treating X-linked dystonia-parkinsonism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.