Living with Hereditary spastic paraplegia 30
A pure or complex type of hereditary spastic paraplegia, often starting in the first or second decade of life.
Understanding Hereditary spastic paraplegia 30
The pure form causes stiff legs, an unsteady spastic walk, and brisk reflexes, usually in the first or second decade of life. The complex form can add muscle wasting, eye movement changes, mild trouble with balance, and mild nerve damage. It can start in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff legs (spasticity)
- Spastic, unsteady walk
- Brisk reflexes in the legs
- Muscle wasting in the hands and feet
- Nerve damage affecting feeling and movement
- Poor balance (ataxia)
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 KIF1A 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 KIF1A gene. It can be autosomal dominant or autosomal recessive.
Also known as: autosomal spastic paraplegia type 30; hereditary spastic paraplegia caused by mutation in kif1a; hereditary spastic paraplegia type 30; kif1a hereditary spastic paraplegia; spastic paraplegia 30; spastic paraplegia 30, autosomal dominant
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 30.
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