National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Leber hereditary optic neuropathy with dystonia



Other Names:
LHON and dystonia; Leber optic atrophy and dystonia; LDYT; LHON and dystonia; Leber optic atrophy and dystonia; LDYT; Marsden syndrome; Dystonia familial, with visual failure and striatal lucencies; Leber's hereditary optic neuropathy with dystonia See More
Categories:

Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genesMT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthriaintellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.[1]
Last updated: 7/7/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 18 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ]
0000496
Athetosis
Involuntary writhing movements in fingers, hands, toes, and feet
0002305
Bradykinesia
Slow movements
Slowness of movements
[ more ]
0002067
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Dystonia 0001332
Increased CSF lactate 0002490
Increased serum lactate 0002151
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Leber optic atrophy 0001112
Mitochondrial inheritance 0001427
Optic atrophy 0000648
Peripheral neuropathy 0009830
Scoliosis 0002650
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Visual loss
Loss of vision
Vision loss
[ more ]
0000572
Showing of 18 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Leber hereditary optic neuropathy with dystonia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Leber hereditary optic neuropathy with dystonia:
    My Retina Tracker®
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leber hereditary optic neuropathy with dystonia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.


  1. Leber Optic Atrophy and Dystonia. Online Mendelian Inheritance of Man (OMIM). December 2009; http://omim.org/entry/500001. Accessed 7/7/2011.