Living with Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
A rare genetic condition with normal early development, then vision loss in childhood followed by balance, movement, and nerve problems.
Understanding Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Development is normal at first. In childhood, damage to the optic nerve causes progressive vision loss and eventually blindness. Over time, balance and coordination problems (ataxia), eye shaking, reduced vibration and position sense, and stiffness in the legs follow. Later, weakness can affect all four limbs.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Vision loss from optic nerve damage
- Poor balance and coordination (ataxia)
- Eye shaking (nystagmus)
- Stiff legs (spasticity)
- Reduced vibration and position sense
- Loss of the ability to walk
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.
- 3Consider genetic testing
Changes in UCHL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 says changes in the UCHL1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: spastic paraplegia 79, autosomal recessive; spastic paraplegia 79b, autosomal recessive
Patient organizations
Rare-disease groups that can help
- 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 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome.
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