Living with Spastic ataxia 2
A rare inherited nervous system condition with slowly worsening leg stiffness and weakness and poor coordination.
Understanding Spastic ataxia 2
Leg stiffness and weakness slowly worsen over time, along with poor balance and coordination from the cerebellum. Walking, speech and reflexes are affected. Other features can include tremor, muscle twitching, involuntary movements, eye movement differences and wasting of the hand and foot muscles. Onset varies from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Leg stiffness (spasticity)
- Unsteady walk and frequent falls
- Slurred speech (dysarthria)
- Muscle twitching
- Wasting of hand and foot muscles
- Involuntary eye movements (nystagmus)
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 KIF1C 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
GARD lists changes in the KIF1C gene. It can be inherited in an autosomal dominant way (one changed copy) or an autosomal recessive way (a changed copy from each parent).
Also known as: ataxia, spastic, 2, autosomal recessive; autosomal recessive spastic ataxia type 2; autosomal spastic ataxia type 2; autosomal spastic paraplegia type 58; kif1c spastic ataxia; spastic ataxia caused by mutation in kif1c
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 Spastic ataxia 2.
Explore research for Spastic ataxia 2
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