Living with Hereditary spastic paraplegia 56
A rare type of hereditary spastic paraplegia with late walking, toe walking, and stiff legs, starting from birth to childhood.
Understanding Hereditary spastic paraplegia 56
Features include delayed walking, toe walking, an unsteady spastic walk, and brisk reflexes in the legs. Arm stiffness, dystonia (twisting muscle contractions), mild nerve damage, and intellectual disability have also been linked to it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Spastic, unsteady walk
- Toe walking
- Brisk reflexes in the legs
- Delayed development
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 CYP2U1 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 Genetic Cures for Kids 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 CYP2U1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive spastic paraplegia 56; autosomal recessive spastic paraplegia type 56; cyp2u1 hereditary spastic paraplegia; hereditary spastic paraplegia caused by mutation in cyp2u1; hereditary spastic paraplegia type 56; spastic paraplegia 56
Patient organizations
- Genetic Cures for Kids FoundationHereditary spastic paraplegia 56 · Spastic Paraplegia Foundation
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 56.
Explore research for Hereditary spastic paraplegia 56
Explore actively recruiting Hereditary spastic paraplegia 56 studies with HealthSpark.
Find actively recruiting studies for Hereditary spastic paraplegia 56 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 56 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 56
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 56 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.