Living with Autosomal recessive spastic paraplegia type 69
A rare inherited condition with leg stiffness, delayed development, cataracts, and hearing loss, starting in infancy.
Understanding Autosomal recessive spastic paraplegia type 69
People have global developmental delay, overactive reflexes, unclear speech (dysarthria), and intellectual disability. They can also have cataracts (clouded lenses) and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiffness in the legs (spasticity)
- Global developmental delay
- Mild intellectual disability
- Cataracts (clouded lens)
- Hearing loss
- Hand tremor
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 RAB3GAP2 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 RAB3GAP2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: spg69
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 Autosomal recessive spastic paraplegia type 69.
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