Living with Spinocerebellar ataxia with epilepsy
A POLG-related condition, also called MEMSA, with poor coordination, seizures and muscle disease starting in young adulthood.
Understanding Spinocerebellar ataxia with epilepsy
Signs usually appear in young adulthood. The first symptom is usually poor coordination and balance from the cerebellum. Seizures usually come later, often with sudden muscle jerks (myoclonus). People may also have severe brain dysfunction (encephalopathy) or muscle weakness (myopathy), which may be most noticeable during exercise.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poor coordination and balance (ataxia)
- Seizures
- Sudden muscle jerks (myoclonus)
- Muscle weakness (myopathy)
- Slurred speech (dysarthria)
- Drooping eyelids and eye movement problems
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.
- 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
National Ataxia Foundation, 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: National Ataxia 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 National Ataxia 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 lists changes in the POLG gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: memsa - myoclonic epilepsy myopathy sensory ataxia; mitochondrial spinocerebellar ataxia with epilepsy; mscae; myoclonic epilepsy myopathy sensory ataxia; scae
Patient organizations
- National Ataxia FoundationSpinocerebellar ataxia with epilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spinocerebellar ataxia with epilepsy.
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