Living with Maternally-inherited Leigh syndrome
A progressive brain condition starting in infancy or childhood, passed from mother to child through mitochondrial DNA.
Understanding Maternally-inherited Leigh syndrome
Children may have vomiting, seizures, delayed development, muscle weakness, and movement problems. Heart disease, kidney problems, and breathing difficulty can also occur. Changes in at least 11 mitochondrial genes have been found to cause it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Delayed development
- Muscle weakness and low muscle tone
- Unsteady movement (ataxia)
- Repeated vomiting
- Weak eye movement muscles
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Cure Mito 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)
- Expert care
- Expert lists: Cure Mito 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 Cure Mito 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 mitochondrial DNA. It follows maternal (mitochondrial) inheritance. Mitochondria pass only through egg cells, so only females pass it to their children.
Also known as: maternally inherited infantile subacute necrotizing encephalopathy; maternally inherited leigh disease; maternally inherited leigh syndrome; maternally-inherited infantile subacute necrotizing encephalopathy; maternally-inherited leigh disease; mils
Patient organizations
- Cure Mito FoundationMaternally-inherited Leigh syndrome · 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 Maternally-inherited Leigh syndrome.
Explore research for Maternally-inherited Leigh syndrome
Explore actively recruiting Maternally-inherited Leigh syndrome studies with HealthSpark.
Find actively recruiting studies for Maternally-inherited Leigh syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Maternally-inherited Leigh syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Maternally-inherited Leigh syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Maternally-inherited Leigh syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.