Living with Leber plus disease
A very rare inherited form of Leber optic neuropathy that combines vision loss with movement problems.
Understanding Leber plus disease
Dystonia means involuntary muscle contractions, tremors, and other uncontrolled movements. Dystonia usually begins in childhood, and vision loss may begin in early adulthood. Other features can include difficulty walking, muscle wasting, scoliosis, and trouble swallowing.
Signs & symptoms
Symptoms vary from person to person. GARD lists these in its summary:
- Vision loss
- Dystonia (involuntary muscle contractions)
- Tremors
- Difficulty walking
- Muscle wasting
- Trouble swallowing (dysphagia)
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 eye disease specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation, United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Cardiomyopathy 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 Leber's Hereditary Optic Neuropathy 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 in mitochondrial genes, including MT-ND1, MT-ND3, MT-ND4, and MT-ND6. It follows a mitochondrial pattern of inheritance.
Also known as: lhon plus disease
Patient organizations
- Leber's Hereditary Optic NeuropathyLeber plus disease · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · 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 Leber plus disease.
Explore research for Leber plus disease
Explore actively recruiting Leber plus disease studies with HealthSpark.
Find actively recruiting studies for Leber plus disease 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 Leber plus disease 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 Leber plus disease
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 Leber plus disease 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.