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Diseases » Leigh syndrome » Summary
 

What is Leigh syndrome?

What is Leigh syndrome?

  • Leigh syndrome: A rare, progressive, neurological disorder characterized by the degeneration of the brain and impaired function of various body organs. The condition is caused by a systemic deficiency of the cytochrome C oxidase enzyme.
  • Leigh syndrome: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
    Source - Diseases Database

Leigh syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Leigh syndrome, or a subtype of Leigh syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Leigh syndrome as a "rare disease".
Source - Orphanet

Leigh syndrome: Introduction

Types of Leigh syndrome:

Broader types of Leigh syndrome:

How serious is Leigh syndrome?

Complications of Leigh syndrome: see complications of Leigh syndrome

What causes Leigh syndrome?

Causes of Leigh syndrome: see causes of Leigh syndrome

What are the symptoms of Leigh syndrome?

Symptoms of Leigh syndrome: see symptoms of Leigh syndrome

Complications of Leigh syndrome: see complications of Leigh syndrome

Onset of Leigh syndrome: early infancy

Can anyone else get Leigh syndrome?

More information: see contagiousness of Leigh syndrome
Inheritance: see inheritance of Leigh syndrome

Leigh syndrome: Testing

Diagnostic testing: see tests for Leigh syndrome.

Misdiagnosis: see misdiagnosis and Leigh syndrome.

How is it treated?

Doctors and Medical Specialists for Leigh syndrome: Medical Geneticist ; see also doctors and medical specialists for Leigh syndrome.
Treatments for Leigh syndrome: see treatments for Leigh syndrome
Research for Leigh syndrome: see research for Leigh syndrome

Name and Aliases of Leigh syndrome

Main name of condition: Leigh syndrome

Other names or spellings for Leigh syndrome:

subacute necrotizing encephalopathy, necrotizing encephalopathy, infantile, COX deficiency, systemic, cytochrome C oxidase deficiency, systemic, LS, SNE, Necrotizing encephalopathy, infantile subacute, of Leigh, Leigh's necrotizing encephalopathy

Subacute necrotising encephalomyelopathy Source - Diseases Database

LS, Leigh's necrotizing encephalopathy, Necrotizing encephalopathy, infantile subacute, of Leigh, SNE, Subacute necrotizing encephalopathy, Leigh's necrotizing encephalopathy, Necrotizing encephalopathy, infantile subacute, of Leigh, SNE, Subacute necrotizing encephalopathy, LS
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Leigh syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Leigh syndrome:

 

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