Leigh syndrome

Common Name(s)

Leigh syndrome, Leigh's disease

Leigh syndrome is a rare inherited degenerative neurological condition that affects the central nervous system. It usually begins in infants between the ages of three months and two years. Rarely, it occurs in teenagers and adults. Signs and symptoms usually progress rapidly. The earliest signs may be poor sucking ability, and the loss of head control and motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. There are several different gene mutations that can cause this condition. Leigh syndrome can be caused by mutations in mitochondrial DNA or nuclear DNA.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leigh syndrome" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

Last Updated: 28 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Leigh syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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United Mitochondrial Disease Foundation

The United Mitochondrial Disease Foundation strives to promote research and education for the diagnosis, treatment and cures of mitochondrial disorders and to provide support to affected individuals and families.

http://www.umdf.org

Last Updated: 28 Feb 2013

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General Resources

UMDF National Resource Guide

The UMDF Mitochondrial Resource Guide is available Online! It represents many hours of searching for the best information and resources to help you care for yourself and/or your family member affected by a mitochondrial disease.

Updated 29 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Leigh syndrome" returned 51 free, full-text research articles on human participants. First 3 results:

A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.
 

Author(s): C K Ching, Chloe M Mak, K M Au, K Y Chan, Y P Yuen, Eric K C Yau, Louis C K Ma, H L Chow, Albert Y W Chan

Journal: Hong Kong Med J. 2013 Aug;19(4):357-61.

 

We report an uncommon mitochondrial variant in a baby girl with congenital hyperlactataemia and Leigh syndrome. The patient presented with a single episode of generalised clonic convulsion at day 19, and was found to have isolated and persistent hyperlactataemia ranging from 3.34 ...

Last Updated: 6 Aug 2013

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Anesthetic management of a pediatric patient with Leigh syndrome.
 

Author(s): Ismail Serhat Kocamanoglu, Esra Sarihasan

Journal: Rev Bras Anestesiol. ;63(2):220-2.

 

Leigh syndrome (LS) is a rare disease caused by abnormalities of mitochondrial energy generation. The central nervous system is most frequently affected, with psychomotor underdevelopment, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. ...

Last Updated: 22 Apr 2013

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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.
 

Author(s): Mike Gerards, Rick Kamps, Jo van Oevelen, Iris Boesten, Eveline Jongen, Bart de Koning, Hans R Scholte, Isabel de Angst, Kees Schoonderwoerd, Abdelaziz Sefiani, Ilham Ratbi, Wouter Coppieters, Latifa Karim, René de Coo, Bianca van den Bosch, Hubert Smeets

Journal: Brain. 2013 Mar;136(Pt 3):882-90.

 

Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this ...

Last Updated: 25 Feb 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Leigh syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
 

Author(s): Vincent Procaccio, Douglas C Wallace

Journal: Neurology. 2004 May;62(10):1899-901.

 

Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a ...

Last Updated: 25 May 2004

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Last Updated: 1 Feb 1999

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial Disease
 

Status: Recruiting

Condition Summary: Inherited Mitochondrial Disease, Including Leigh Syndrome

 

Last Updated: 2 Jul 2014

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Tissue Sample Study for Mitochondrial Disorders
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Disease; Melas; Kearns Sayer; NARP; MNGIE; LHON; Mitochondrial Depletion Syndrome; Leigh's Disease

 

Last Updated: 1 Mar 2013

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
 

Status: Recruiting

Condition Summary: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

 

Last Updated: 18 Nov 2013

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