Living with Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
A rare genetic nervous system condition (MEPAN syndrome) with dystonia, vision problems, and changes in a movement-control part of the brain.
Understanding Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Brain scans show changes in the basal ganglia, a part of the brain that helps control movement. People have involuntary muscle contractions (dystonia) and vision problems from damage to the optic nerve. Other symptoms can include jerky movements (chorea), trouble speaking, and unusual eye movements. It slowly gets worse over time, but it usually does not affect thinking and memory. It begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tightening (dystonia)
- Optic nerve damage (optic atrophy)
- Reduced sharpness of vision
- Trouble speaking (dysarthria)
- Rapid, involuntary eye movements (nystagmus)
- Delays in motor skills
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 MECR 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
Dystonia Medical Research 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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Dystonia Medical Research 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 MEPAN 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 the MECR gene cause this condition. It can be autosomal recessive (a changed copy from each parent) and is also listed as mitochondrial.
Also known as: autosomal recessive childhood-onset dystonia dyt29 type; autosomal recessive childhood-onset dystonia, dyt29 type; childhood-onset generalized dystonia-optic atrophy syndrome; childhood-onset generalized dystonia, optic atrophy syndrome; dystonia 29; dystonia 29, childhood-onset
Patient organizations
- MEPAN FoundationDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities · United States
- Dystonia Medical Research FoundationDystonia · 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 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.
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