Overview
X-linked parkinsonism-spasticity syndrome is an extremely rare genetic neurological condition that primarily affects males. It is caused by changes (mutations) in a gene located on the X chromosome, which means it follows an X-linked pattern of inheritance. The condition is characterized by a combination of parkinsonism — which includes tremor, slowness of movement, stiffness, and balance problems similar to Parkinson's disease — along with spasticity, which is an abnormal tightness or stiffness in the muscles, particularly in the legs. These symptoms together can significantly affect a person's ability to walk and perform daily activities. The disease typically begins in adulthood, and symptoms tend to worsen gradually over time. Affected individuals may first notice difficulty with movement, stiffness in their limbs, or tremor. Because the condition is X-linked, it mainly affects males, while females who carry one copy of the altered gene are usually unaffected or may have very mild symptoms. There is currently no cure for X-linked parkinsonism-spasticity syndrome. Treatment is focused on managing symptoms. Medications used for Parkinson's disease, such as levodopa, may be tried to help with parkinsonian symptoms, though the response can vary. Physical therapy and rehabilitation are important parts of care to help maintain mobility and reduce the impact of spasticity. Anti-spasticity medications such as baclofen or tizanidine may also be used. Research into this condition is ongoing, and management is best coordinated by a team of specialists familiar with movement disorders.
Also known as:
Key symptoms:
Tremor in the hands or limbsSlowness of movement (bradykinesia)Muscle stiffness or rigiditySpasticity (tight, stiff muscles especially in the legs)Difficulty walking or unsteady gaitBalance problemsDifficulty with fine motor tasks like writing or buttoning clothesMuscle weaknessIncreased muscle reflexesProgressive worsening of movement over timeDifficulty with speech or swallowing in advanced stages
Clinical phenotype terms (14)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for X-linked parkinsonism-spasticity syndrome.
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Specialists
View all specialists →No specialists are currently listed for X-linked parkinsonism-spasticity syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to X-linked parkinsonism-spasticity syndrome.
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Caregiver Resources
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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.How certain is the diagnosis, and should genetic testing be done to confirm it?,Would levodopa or other Parkinson's medications be helpful in my case?,What physical therapy program would be most beneficial for me?,How quickly is this condition likely to progress in my case?,Should my family members be tested for this genetic change?,Are there any clinical trials or research studies I could participate in?,What should I do if I start having trouble swallowing or speaking?
Common questions about X-linked parkinsonism-spasticity syndrome
What is X-linked parkinsonism-spasticity syndrome?
X-linked parkinsonism-spasticity syndrome is an extremely rare genetic neurological condition that primarily affects males. It is caused by changes (mutations) in a gene located on the X chromosome, which means it follows an X-linked pattern of inheritance. The condition is characterized by a combination of parkinsonism — which includes tremor, slowness of movement, stiffness, and balance problems similar to Parkinson's disease — along with spasticity, which is an abnormal tightness or stiffness in the muscles, particularly in the legs. These symptoms together can significantly affect a person
How is X-linked parkinsonism-spasticity syndrome inherited?
X-linked parkinsonism-spasticity syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked parkinsonism-spasticity syndrome typically begin?
Typical onset of X-linked parkinsonism-spasticity syndrome is adult. Age of onset can vary across affected individuals.