Living with Spastic ataxia 7
A rare inherited condition with unsteady walking, stiff muscles, slurred speech and unusually small pupils.
Understanding Spastic ataxia 7
It seems to be non-progressive or to worsen only slowly. People have an unsteady walk, stiff muscles, strong reflexes and slurred speech. The pupils are fixed in a small size (miosis) from birth and dilate poorly. Involuntary eye movements (nystagmus) can also occur. Onset varies from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady walk (ataxia)
- Small, fixed pupils from birth
- Slurred speech (dysarthria)
- Strong reflexes
- Involuntary eye movements (nystagmus)
- Weakness on one side of the body
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, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Ataxia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia 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 National Ataxia 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 doesn't list a gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of a gene is enough.
Also known as: autosomal dominant spastic ataxia type 7; spastic ataxia 7, autosomal dominant; spastic ataxia type 7; spastic ataxia with congenital miosis; spax7
Patient organizations
- National Ataxia FoundationAtaxia · 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 7.
Explore research for Spastic ataxia 7
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