Living with Maternally-inherited mitochondrial dystonia
A rare nervous system condition with muscle tightening (dystonia) that starts in childhood and is passed through mothers.
Understanding Maternally-inherited mitochondrial dystonia
Dystonia means muscles that tighten and twist on their own. The severity varies from person to person. It starts in childhood.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes dystonia that gets worse over time.
- Dystonia (muscle tightening and twisting)
- Symptoms that start in childhood
- Severity that varies between people
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 describes it as related to mitochondrial DNA with mitochondrial (maternal) inheritance. It does not name a specific gene.
Also known as: maternally inherited mitochondrial dystonia; mitochondrial dna-related dystonia; mtdna-related dystonia
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 Maternally-inherited mitochondrial dystonia.
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