Living with Spastic ataxia-corneal dystrophy syndrome
A rare inherited condition with unsteady, stiff movement and eye problems, with normal intelligence.
Understanding Spastic ataxia-corneal dystrophy syndrome
People have a stiff, unsteady walk (spastic ataxia), cataracts in both eyes from birth, clouding of the cornea and nearsightedness. Intelligence is normal. GARD notes there have been no further descriptions in the medical literature since 1986. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, unsteady walk
- Cataracts present from birth
- Corneal dystrophy (clouded cornea)
- Nearsightedness (myopia)
- Optic nerve damage
- Small cerebellum
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. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: bedouin spastic ataxia syndrome; mousa-al din-al nassar syndrome; spastic ataxia and corneal dystrophy; spastic ataxia-ocular anomalies syndrome; spinocerebellar degeneration co-occurrent with macular corneal dystrophy; spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
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-corneal dystrophy syndrome.
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