Living with Hereditary spastic paraplegia 23
A rare, complex type of hereditary spastic paraplegia with leg stiffness, skin color changes, and early graying of hair.
Understanding Hereditary spastic paraplegia 23
Along with worsening leg stiffness, people have nerve damage, skin color changes (vitiligo, darker areas, freckle-like spots), early graying of the hair, and a thin face with sharp features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spastic paraplegia)
- Spastic walk
- Patchy loss of skin color (vitiligo)
- Freckle-like spots (lentigines)
- Curved spine (kyphoscoliosis)
- Bowel urgency or control problems
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 DSTYK 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
Spastic Paraplegia Foundation 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: Spastic Paraplegia Foundation
- 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 Spastic Paraplegia Foundation
- 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
It is caused by changes in the DSTYK gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive complex spastic paraplegia caused by mutation in dstyk; autosomal recessive spastic paraplegia type 23; dstyk autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 23; lison syndrome; spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
Patient organizations
- Spastic Paraplegia FoundationHereditary spastic paraplegia · 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 Hereditary spastic paraplegia 23.
Explore research for Hereditary spastic paraplegia 23
Explore actively recruiting Hereditary spastic paraplegia 23 studies with HealthSpark.
Find actively recruiting studies for Hereditary spastic paraplegia 23 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 Hereditary spastic paraplegia 23 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 Hereditary spastic paraplegia 23
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 Hereditary spastic paraplegia 23 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.