Living with X-linked parkinsonism-spasticity syndrome
A rare nervous system condition with tremor, slow movement, stiffness, and strong reflexes, starting in the teen or adult years.
Understanding X-linked parkinsonism-spasticity syndrome
Parkinsonian features include resting or action tremor, stiffness with a ratchet-like feel (cogwheel rigidity), reduced facial expression, and slow movement. Spasticity and overactive reflexes vary. It usually starts in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Resting tremor
- Slow movement (bradykinesia)
- Cogwheel muscle stiffness
- Muscle stiffness (spasticity)
- Overactive reflexes
- Babinski sign (a reflex test finding)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ATP6AP2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Parkinson & Movement Disorder Alliance may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Parkinson & Movement Disorder Alliance
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Parkinson & Movement Disorder Alliance
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
X-linked parkinsonism-spasticity syndrome is caused by changes in the ATP6AP2 gene and follows X-linked inheritance.
Also known as: parkinsonism with spasticity, x-linked; parkinsonism with spasticity, x-linked, x-linked recessive; x-linked parkinsonism with spasticity syndrome; xpds; xpds - x-linked parkinsonism with spasticity syndrome
Patient organizations
- Parkinson & Movement Disorder AllianceParkinsonism · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked parkinsonism-spasticity syndrome.
Explore research for X-linked parkinsonism-spasticity syndrome
Explore actively recruiting X-linked parkinsonism-spasticity syndrome studies with HealthSpark.
Find actively recruiting studies for X-linked parkinsonism-spasticity syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting X-linked parkinsonism-spasticity syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for X-linked parkinsonism-spasticity syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your X-linked parkinsonism-spasticity syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.