Leigh syndrome
Última actualización 6 Mar 2025
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Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterised by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.
Descripción
Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterised by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.
The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These problems often result in an inability to grow and gain weight at the expected rate (failure to thrive). Severe muscle and movement problems are common in Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss of sensation and weakness in the limbs (peripheral neuropathy), common in people with Leigh syndrome, may also make movement difficult.
Several other features may occur in people with Leigh syndrome. Many individuals with this condition develop weakness or paralysis of the muscles that move the eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). Severe breathing problems are common, and these problems can worsen until they cause acute respiratory failure. Some affected individuals develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. In addition, a substance called lactate can build up in the body, and excessive amounts are often found in the blood, urine, or the fluid that surrounds and protects the brain and spinal cord (cerebrospinal fluid) of people with Leigh syndrome.
The signs and symptoms of Leigh syndrome are caused in part by patches of damaged tissue (lesions) that develop in the brains of people with this condition. A medical procedure called magnetic resonance imaging (MRI) reveals characteristic lesions in certain regions of the brain. These regions include the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates movement; and the brainstem, which connects the brain to the spinal cord and controls functions such as swallowing and breathing. The brain lesions are often accompanied by loss of the myelin coating around nerves (demyelination), which reduces the ability of the nerves to activate muscles used for movement or relay sensory information from the rest of the body back to the brain.
Patrones de herencia
The source lists the following possible inheritance patterns: X-linked recessive; Autosomal recessive; Not inherited; mitochondrial. More than one pattern can apply in different cases.
Related genes
Otros nombres
Infantile subacute necrotizing encephalopathy
Juvenile subacute necrotizing encephalopathy
Leigh disease
Leigh's disease
Subacute necrotizing encephalomyelopathy
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Lecturas adicionales y referencias
- Leigh syndrome; MedlinePlus, National Library of Medicine.
- Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1173/
- Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15.
- Pecina P, Capkova M, Chowdhury SK, Drahota Z, Dubot A, Vojtiskova A, Hansikova H, Houst'kova H, Zeman J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. doi: 10.1016/s0925-4439(03)00127-3.
- Rahman S, Thorburn DR, Ball M. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview. 2015 Oct 1 [updated 2025 May 1]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK320989/
- Rahman S. Leigh syndrome. Handb Clin Neurol. 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4.
- Schubert Baldo M, Vilarinho L. Molecular basis of Leigh syndrome: a current look. Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9.
- Sgarbi G, Baracca A, Lenaz G, Valentino LM, Carelli V, Solaini G. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem J. 2006 May 1;395(3):493-500. doi: 10.1042/BJ20051748.
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