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Leigh syndrome


Información en español Title


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Other Names:
LS; Subacute necrotizing encephalopathy; SNE; LS; Subacute necrotizing encephalopathy; SNE; Necrotizing encephalopathy infantile subacute of Leigh; Leigh's necrotizing encephalopathy; Leigh's disease; Infantile subacute necrotizing encephalopathy; Leigh disease See More
Categories:
Congenital and Genetic Diseases; RDCRN
Subtypes:
Leigh syndrome, French Canadian type; Mitochondrial DNA-associated Leigh syndrome; Nuclear gene-encoded Leigh syndrome
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Summary Summary


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Leigh syndrome is a rare, inherited neurodegenerative condition. It usually becomes apparent in infancy, often after a viral infection. Rarely, it begins in the teenage or adult years. Signs and symptoms usually progress rapidly. Early symptoms may include poor sucking ability; loss of head control and motor skills; loss of appetite; vomiting; and seizures.[1] As the condition progresses, symptoms may include weakness and lack of muscle tone; spasticity; movement disorders; cerebellar ataxia; and peripheral neuropathy. Complications can lead to impairment of respiratory, heart and kidney function.[2] The term "Leigh-like syndrome" is often used for people with features that are strongly suggestive of Leigh syndrome but who do not meet the diagnostic criteria.[3] 

The inheritance of Leigh syndrome depends on where the responsible gene is located in each case. This is because it can be due to mutations in either mitochondrial DNA or nuclear DNA:[3][2][4]
  • Mitochondrial DNA-associated Leigh syndrome follows a mitochondrial inheritance pattern (also called maternal inheritance).
  • Nuclear gene-encoded Leigh syndrome may be inherited in an autosomal recessive or X-linked manner.
Treatment is based on the symptoms present and depends on the type of Leigh syndrome a person has.[2][4] While life expectancy depends on the cause of Leigh syndrome in each person, most do not survive past mid-childhood or adolescence.[1]
Last updated: 12/27/2016

Symptoms Symptoms


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The symptoms of Leigh syndrome vary greatly from person to person. Very rarely, affected people with near-normal neurologic findings have been reported. Most people with Leigh syndrome have central nervous system and peripheral nervous system abnormalities, without involvement of other body systems.[5]

Central nervous system abnormalities may include:[1][5]
  • Developmental delay or regression
  • Nystagmus
  • Ophthalmoparesis (weakness in the muscles that control eye movement)
  • Optic atrophy
  • Ataxia
  • Dysphagia
  • Retinitis pigmentosa
  • Deafness

Peripheral nervous system abnormalities may include polyneuropathy and myopathy.[1][5]

Although most people with Leigh syndrome only have neurological abnormalities, some people also have non-neurologic abnormalities. These may include:[5]

  • Distinct physical features
  • Hormone abnormalities resulting in short stature or hypertrichosis
  • Heart abnormalities (hypertrophic or dilated cardiomyopathy)
  • Gastrointestinal symptoms such as diarrhea
Last updated: 12/27/2016

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 39 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of movement
Movement disorder
Unusual movement
[ more ]
0100022
Ataxia 0001251
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Decreased activity of mitochondrial respiratory chain 0008972
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Respiratory insufficiency
Respiratory impairment
0002093
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
30%-79% of people have these symptoms
Hemiplegia/hemiparesis
Paralysis or weakness of one side of body
0004374
Optic atrophy 0000648
Progressive ophthalmoplegia 0007650
Progressive spastic paraplegia 0007020
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Abnormal pattern of respiration
Abnormal respiratory patterns
Unusual breathing patterns
[ more ]
0002793
Autosomal recessive inheritance 0000007
CNS demyelination 0007305
Dysarthria
Difficulty articulating speech
0001260
Dystonia 0001332
Emotional lability
Emotional instability
0000712
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
Hepatocellular necrosis
Death of liver cells
0001404
Hyperreflexia
Increased reflexes
0001347
Hypertrichosis 0000998
Increased CSF lactate 0002490
Increased serum lactate 0002151
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Lactic acidosis
Increased lactate in body
0003128
Mitochondrial inheritance 0001427
Ophthalmoplegia
Eye muscle paralysis
0000602
Pigmentary retinopathy 0000580
Progressive
Worsens with time
0003676
Psychomotor retardation 0025356
Ptosis
Drooping upper eyelid
0000508
Respiratory failure 0002878
Sensorineural hearing impairment 0000407
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Showing of 39 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021

Cause Cause


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Leigh syndrome can be caused by mutations in any of more than 75 different genes. Most of our genes are made up of DNA in the cell's nucleus (nuclear DNA). Some of our genes are made up of DNA in other cell structures called mitochondria (mitochondrial DNA, or mtDNA). Most people with Leigh syndrome have a mutation in nuclear DNA, and about 20% have a mutation in mtDNA.

Most genes associated with Leigh syndrome are involved in the process of energy production in mitochondria (oxidative phosphorylation). Five protein complexes, named complex I through complex IV, are involved in this process. Many of the gene mutations associated with Leigh syndrome disrupt the function of proteins in these complexes, how the complexes form, or additional steps related to energy production. Researchers believe that impaired oxidative phosphorylation may cause cells to die because they don't have enough energy. The death of brain cells likely contributes to the neurologic features of the condition, while the death of cells in other tissues may lead to additional symptoms in other parts of the body.[2]

More information about the genes responsible for Leigh syndrome is available here on the Genetics Home Reference website.
Last updated: 12/27/2016

Inheritance Inheritance


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Leigh syndrome can be inherited in different ways depending on the location of the responsible gene in each person.[2]

It is most commonly inherited in an autosomal recessive manner.[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:
  • 25% chance to be affected
  • 50% chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not a carrier
Autosomal recessive inheritance applies to most of the associated genes in nuclear gene-encoded Leigh syndrome.[2]

In about 20% of cases, when Leigh syndrome is due to mutations in mitochondrial DNA (mitochondrial DNA-associated Leigh syndrome), it is inherited in a mitochondrial pattern.[2] This is also called maternal inheritance. Only egg cells, but not sperm cells, pass mitochondria on to children. This means that children can inherit mtDNA mutations from their mother only. This type of Leigh syndrome can occur in every generation of a family, and can affect males and females. However, affected males do not pass the condition on to their children. The father of an affected child is not at risk of having the mtDNA mutation, but the mother of an affected child usually has the mutation and may or may not have symptoms. In some cases, an mtDNA mutation occurs for the first time in an affected person and is not inherited. This is called a de novo mutation.

In a few cases of Leigh syndrome due to mutations in nuclear DNA, inheritance is X-linked recessive.[2] X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a gene mutation on one of them, they still have a normal copy on their other X chromosome. For this reason, females are typically unaffected. While females can have an X-linked recessive condition, it is very rare.

If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex.
  • Each son has a 50% chance to be unaffected, and a 50% chance to be affected
  • Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier
If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.
Last updated: 12/27/2016

Diagnosis Diagnosis


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Leigh syndrome may be diagnosed by using the following criteria, defined by Rahman et al. in 1996:[3]
  • Progressive neurologic disease with motor and intellectual developmental delay
  • Signs and symptoms of brainstem and/or basal ganglia disease
  • Raised lactate concentration in blood and/or cerebrospinal fluid (CSF)
  • The presence of one or more of the following:
    • Characteristic features on brain imaging (CT scan or MRI)
    • Typical nervous system tissue changes
    • Typical nervous system tissue changes in a similarly affected sibling
After these criteria are met and a diagnosis of Leigh syndrome is made, molecular genetic testing can then differentiate between mtDNA-associated Leigh syndrome (caused by mutations in mtDNA) and nuclear gene-encoded Leigh syndrome (caused by mutations in nuclear DNA).[3] A diagnosis of nuclear gene-encoded Leigh syndrome can be made either by identifying a mutation in nuclear DNA, or by excluding the presence of a mutation in mtDNA.[4]

Because not all patients have increased lactate levels, recent studies proposed new diagnostic criteria excluding the raised lactate levels as a prerequisite. The remaining criteria are similar, but add mitochondrial dysfunction as a criterion.[3]

A diagnosis of Leigh-like syndrome may be considered in individuals who do not meet the strict diagnostic criteria but have features resembling Leigh syndrome.[3] 
Last updated: 12/28/2016

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment


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Treatment of Leigh syndrome is directed toward the specific symptoms present in each person.[6]

Supportive care for Leigh syndrome includes treatment of acidosis, seizures, dystonia, and cardiomyopathy, and attention to nutritional status.[4][3]

Because anesthesia can potentially aggravate respiratory symptoms and bring on respiratory failure, careful consideration should be given to its use and close monitoring prior to, during, and after its use.[4][3]

Progression and new symptoms should be monitored regularly (typically every 6-12 months). Evaluations with a neurologist, ophthalmologist, audiologist, and cardiologist are recommended.[4][3]

Specific treatment is possible for the three nuclear gene-encoded Leigh-like syndromes (milder conditions with similar features). These include biotin-thiamine-responsive basal ganglia disease (BTBGD), biotinidase deficiency, and coenzyme Q10 deficiency caused by mutation of PDSS2.[4]
Last updated: 12/27/2016

Statistics Statistics


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Leigh syndrome in general is rare and is estimated to affect about 1 in 30,000 to 1 in 40,000 people at birth. Mitochondrial DNA-associated Leigh syndrome, which is more rare than nuclear gene-encoded Leigh syndrome, is likely to occur in about 1 in 100,000 to 1 in 140,000 births.[3]

Leigh syndrome is much more common in certain populations. For example, it occurs in approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of Quebec, Canada and in approximately 1 in 1,700 on the Faroe Islands (between Norway and Iceland).[2]
Last updated: 12/27/2016
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
  • You can submit a question to Ask the Mito Doc, a service of the United Mitochondrial Diseases Foundation. Information contained in Ask the Mito DocSM is for informational and educational purposes only.

Research Research


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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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Leigh syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Leigh syndrome. 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 Leigh syndrome:
    North American Mitochondrial Disease Consortium (NAMDC) Contact Registry
    People Against Leigh Syndrome Registry
     

Organizations Organizations


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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

  • MitoAction
    PO Box 51474
    Boston, MA 02205
    Toll-free: 1-888-648-6228
    Telephone: 1-888-MITO-411 (648-6411) for support line
    E-mail: info@mitoaction.org
    Website: https://www.mitoaction.org/
  • People Against Leigh Syndrome (PALS)
    Lori Martin, Director
    Houston, TX,
    Telephone: 713-863-0485
    E-mail: director@peopleagainstleighs.org
    Website: http://peopleagainstleighs.org/
  • United Mitochondrial Disease Foundation
    8085 Saltsburg Road, Suite 201
    Pittsburgh, PA 15239
    Toll-free: 1-888-317-8633
    Telephone: +1-412-793-8077
    Fax: +1-412-793-6477
    E-mail: info@umdf.org
    Website: https://www.umdf.org

Social Networking Websites

  • Visit the following Facebook groups related to Leigh syndrome:
    Leigh's Syndrome Parent Network
  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Organizations Providing General Support

  • Alex The Leukodystrophy Charity (Alex TLC)
    45 Peckham High Street
    London, SE15 5EB United Kingdom
    Telephone: 020 7701 4388
    E-mail: info@alextlc.org
    Website: https://www.alextlc.org
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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.

Where to Start

  • MedlinePlus Genetics contains information on Leigh syndrome. This website is maintained by the National Library of Medicine.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.
    Mitochondrial DNA-Associated Leigh Syndrome
    Nuclear Gene-Encoded Leigh Syndrome
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Leigh syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Huntsman RJ, Sinclair DB, Bhargava R, Chan A. Atypical presentations of Leigh syndrome: A case series and review. Pediatr Neurol 2005;32:334-340.

GARD Answers GARD Answers


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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. Submit a new question

  • I wonder if I am a carrier of Leigh's disease (Leigh syndrome). My sister is, and her son has been affected by it and he is dying. Did she inherit this from our mom, or from her dad? We have different dads. Please help. Am I at risk? See answer

  • If a couple's first baby is diagnosed with Leigh syndrome, what is the chance that future children will have it as well? Is this condition inherited from the mother or father?  See answer

  • I'd like to know as much as possible about Leigh syndrome. Could you also tell me what type of testing is available for the condition? I am particularly interested in learning more about genetic testing for the syndrome. See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Leigh's Disease Information Page. National Institute of Neurological Disorders and Stroke. December, 2011; http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm.
  2. Leigh syndrome. Genetics Home Reference. June, 2016; https://ghr.nlm.nih.gov/condition/leigh-syndrome.
  3. Thronburn DR & Rahman S.. Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. April 17, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1173/.
  4. Rahman S & Thorburn D. Nuclear Gene-Encoded Leigh Syndrome Overview. GeneReviews. October 1, 2015; http://www.ncbi.nlm.nih.gov/books/NBK320989/.
  5. Finsterer J. Leigh and Leigh-Like Syndrome in Children and Adults. Pediatr Neurol. 2008; http://www.ncbi.nlm.nih.gov/pubmed/18805359.
  6. Leigh Syndrome. NORD. 2016; http://rarediseases.org/rare-diseases/leigh-syndrome/.
Do you know of a review article? We want to hear from you.
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