Living with Leigh syndrome
A severe inherited condition of the brain and nerves that affects movement, feeding, growth, and development, usually starting in infancy.
Understanding Leigh syndrome
It involves a gradual loss of mental and movement abilities. Early signs in infancy are often vomiting, diarrhea, and trouble swallowing, which can affect growth. Muscle and movement problems are common. A small number of people do not have symptoms until adulthood or have symptoms that worsen more slowly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (floppy infant)
- Feeding difficulties and slow weight gain
- Delayed development or loss of skills
- Involuntary movements
- Eye muscle weakness or paralysis (ophthalmoplegia)
- Damage to the optic nerve (optic atrophy)
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, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in IARS2 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
Cure Mito Foundation, Muscular Dystrophy Association and Epilepsy Foundation 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); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Cure Mito Foundation, Muscular Dystrophy Association, Epilepsy Foundation
- 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 genetic changes, and the IARS2 gene is listed. It can be inherited in an autosomal recessive, X-linked, or mitochondrial way.
Also known as: infantile necrotizing encephalomyelopathy; infantile subacute necrotizing encephalopathy; juvenile subacute necrotizing encephalomyelopathy; leigh disease; leigh syndrome spectrum; leigh syndrome, nuclear
Patient organizations
- Cure Mito FoundationLeigh syndrome · United States
- Muscular Dystrophy AssociationLeigh syndrome · United States
- CureARSLeigh syndrome · United States
- Epilepsy FoundationEpilepsy · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Leigh syndrome.
Explore research for Leigh syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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