Other Names for this Disease
- Infantile subacute necrotizing encephalopathy
- Leigh disease
- Leigh's disease
- Leigh's necrotizing encephalopathy
Your QuestionI'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.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is Leigh syndrome?
- What are the symptoms of Leigh syndrome?
- What is known about Leigh syndrome diagnosed in adolescence or adulthood?
- What causes Leigh syndrome?
- How is Leigh syndrome inherited?
- How is Leigh syndrome diagnosed?
- What kind of testing is considered when diagnosing Leigh syndrome?
- Is there genetic testing available for Leigh syndrome-causing mutations in both mitochondrial and nuclear genes?
- How can I find a genetics professional in my area?
- What treatment is available for Leigh syndrome?
Central nervous system abnormalities
- Developmental delay or regression
- Ophthalmoparesis (weakness in the muscles that control eye movement)
- Optic atrophy
- Dysphagia resulting in feeding difficulties, paralysis of cranial nerves, weakness, hypotonia, dystonia, or breathing abnormalities
- Retinitis pigmentosa
Peripheral nervous system abnormalities
Although Leigh syndrome usually only causes neurological abnormalities, there are individuals who present with non-neurologic abnormalities in addition to neurological abnormalities. There are also some patients who have abnormalities in other organs and few neurological abnormalities. The list below includes some of the non-neurologic abnormalities present in some individuals who have Leigh syndrome :
To obtain a listing of the various mutations associated with Leigh syndrome, click here to visit the Online Mendelian Inheritance in Man (OMIM) Web page on Leigh syndrome or click here to view the Leigh syndrome information page created by the Neuromuscular Disease Center at Washington University.
The autosomal recessive form of Leigh syndrome has been linked to mutations in one of several different genes. These genes cause specific enzyme deficiencies. All of these different genetic defects seem to have a common effect on the central nervous system, resulting in progressive neurological deterioration.
There is also evidence for an X-linked recessive form of Leigh's disease. This form has been linked to a specific genetic defect in a gene known as PDHA1 (E1-alpha subunit of the pyruvate dehydrogenase complex) that is located on the X chromosome.
In some cases, Leigh syndrome may be inherited from the mother as a mutation found within the mitochondrial DNA (mtDNA). Mitochondria regulate the production of cellular energy and carry the genetic blueprints for this process within their own unique DNA. All human mtDNA comes from the mother. An affected mother will pass the traits to all of her children, but only the daughters will pass the mutation(s) onto the next generation. The specific mtDNA defect that may be responsible for some cases of Leigh syndrome is associated with a gene known as MT-ATP6. These cases are sometimes referred to as maternally inherited Leigh syndrome (MILS).
- 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)
- One or more of the following:
- Characteristic features of Leigh syndrome on neuroradioimaging (i.e., bilateral symmetric hypodensities [low density areas] in the basal ganglia on CT scan or bilateral symmetrical hyperintense [strong] signal abnormality in the brainstem and/or basal ganglia on T2-weighted MRI)
- Typical neuropathologic changes: multiple focal symmetric lesions in the basal ganglia, thalamus, brainstem, dentate nuclei, and optic nerves (click here to learn about the different parts of the nervous system that might be affected)
- Typical neuropathology in a similarly affected sibling
For clinical laboratories offering genetic testing for mitochondrial genes associated with Leigh syndrome, click here.
For clinical laboratories offering genetic testing for nuclear genes associated with Leigh syndrome, click here.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Leigh's Disease Information Page. National Institute of Neurological Disorders and Stroke. October 2008; http://www.ninds.nih.gov/disorders/leighsdisease/leighsdisease.htm. Accessed 10/5/2011.
- Finsterer J. Leigh and Leigh-Like Syndrome in Children and Adults. Pediatr Neurol. 2008;
- Thronburn DR, Rahman S. . Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. 2003; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=narp. Accessed 1/31/2008.
- Leigh's disease. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract. Accessed 10/6/2011.