Living with Hereditary spastic paraplegia 3A
A type of hereditary spastic paraplegia caused by changes in the ATL1 gene, with stiff legs from childhood or adulthood.
Understanding Hereditary spastic paraplegia 3A
It causes stiff, weak legs, a spastic walk, and wasting of the lower leg muscles. Ankle clonus (rhythmic ankle jerking) is common. It starts in childhood or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Spastic walk
- Weakness in the lower legs
- Wasting of lower leg muscles
- Ankle clonus
- Brisk reflexes in the legs
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 ATL1 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 Carter Foundation for Neurologic Research and other patient organizations
- 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 ATL1 gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: atl1 hereditary spastic paraplegia; autosomal dominant familial spastic paraplegia 1; autosomal dominant spastic paraplegia 3; autosomal dominant spastic paraplegia type 3; familial spastic paraplegia, autosomal dominant, 1; fsp1
Patient organizations
- Carter Foundation for Neurologic ResearchHereditary spastic paraplegia 3A · United States
- Spastic Paraplegia FoundationHereditary spastic paraplegia · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary spastic paraplegia 3A.
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