Living with Hereditary spastic paraplegia 46
A complex type of hereditary spastic paraplegia starting in infancy or childhood, with cataracts and thinking changes.
Understanding Hereditary spastic paraplegia 46
Along with a spastic walk and weak legs, people can have stiffness and weakness in the arms, slurred speech, bladder problems, poor balance, cataracts, and thinking changes that can progress to dementia. Brain scans may show a thin corpus callosum and mild shrinking of the brain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Trouble walking
- Poor balance (ataxia)
- Clouding of the eye lens (cataract)
- Thinking changes (cognitive impairment)
- Shrinking of parts of the brain
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 GBA2 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 GBA2 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 gba2; autosomal recessive spastic paraplegia 46; autosomal recessive spastic paraplegia type 46; gba2 autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 46; spastic paraplegia 46, autosomal recessive
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 46.
Explore research for Hereditary spastic paraplegia 46
Explore actively recruiting Hereditary spastic paraplegia 46 studies with HealthSpark.
Find actively recruiting studies for Hereditary spastic paraplegia 46 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 46 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 46
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 46 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.