Living with Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
A rare mitochondrial condition with optic nerve damage, poor coordination, low muscle tone, and developmental delay.
Understanding Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Core features are optic nerve damage, trouble coordinating movement (ataxia), and low muscle tone. Common features also include developmental delay, sometimes with lost skills, nerve problems, muscle stiffness, and a small head. Less often there are seizures, movement disorders, hearing loss, and breathing problems. Brain imaging may show differences. GARD lists onset as a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Damage to the optic nerve and vision problems
- Trouble coordinating movement (ataxia)
- Low muscle tone (hypotonia)
- Delayed development overall
- Muscle stiffness (spasticity)
- Loss of skills already gained (regression)
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, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FDXR 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
United Mitochondrial Disease Foundation, MitoAction and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, The Foundation for Peripheral Neuropathy
- 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 United Mitochondrial Disease Foundation and other patient organizations
- 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
Changes in the FDXR gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance; in the autosomal recessive pattern, a child inherits a changed copy of the gene from each parent.
Also known as: optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome.
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