Living with Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial condition in adults with balance and feeling problems from nerve damage, slurred speech, and weak eye movements.
Understanding Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
It is marked by three features: nerve damage causing poor balance and loss of sensation (sensory ataxic neuropathy), slurred speech (dysarthria), and weak eye muscles (ophthalmoparesis). Other signs vary and may include muscle disease, seizures, and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Unsteady walking (gait ataxia)
- Slurred speech (dysarthria)
- Drooping eyelid and weak eye movements
- Loss of vibration sense and reduced reflexes
- Hearing loss from nerve damage
- Muscle jerks (myoclonus)
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in POLG 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
Epilepsy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, United Mitochondrial Disease Foundation, MitoAction
- 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 Epilepsy 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
It is caused by changes in the POLG gene. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: c10orf2-related ataxia neuropathy spectrum disorders; epilepsy, progressive myoclonic, type 5; epm5; mitochondrial recessive ataxia syndrome (includes sando and scae); pme type 5; polg-related ataxia neuropathy spectrum disorders
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- 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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.
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