Living with Ataxia neuropathy spectrum
A group of POLG-related conditions affecting balance, nerves, and the brain.
Understanding Ataxia neuropathy spectrum
It now includes conditions once called MIRAS and SANDO. People typically have ataxia (trouble with coordination and balance) and neuropathy (nerve problems), which can be sensory, motor, or mixed. Most also have severe brain dysfunction (encephalopathy) and seizures. Some have eye muscle weakness with drooping eyelids, muscle twitches, liver disease, depression, migraines, or blindness.
Signs & symptoms
GARD doesn't list a symptom list for this condition, but its summary describes these features:
- Trouble with balance and coordination (ataxia)
- Nerve problems (neuropathy): numbness, tingling, or pain
- Seizures
- Brain dysfunction (encephalopathy)
- Weak eye muscles and drooping eyelids
- Muscle twitches (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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 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
GARD says changes in genes (also called variants) cause this condition, and it lists mitochondrial inheritance. It is part of the POLG-related disorders.
Patient organizations
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ataxia neuropathy spectrum.
Explore research for Ataxia neuropathy spectrum
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- Eligibility is confirmed by the study team
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