DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Leigh Syndrome

HIGH SEVERITY

A severe neurological disorder characterized by progressive loss of mental and movement abilities, typically beginning in infancy or childhood. Caused by mitochondrial dysfunction affecting brainstem and basal ganglia. Many genetic causes.

Global Affected

50.0K

Countries

15

Symptoms

Developmental regression
Hypotonia
Ataxia
Ophthalmoplegia
Optic atrophy
Respiratory abnormalities
Lactic acidosis
Seizures

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Poor. Progressive neurodegeneration. Death typically by age 2-3 in classic form. Some subtypes have slower progression. Supportive care only.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

No cure. Supportive care. Thiamine for thiamine-responsive forms. EPI-743 (ubiquinone analog) in trials. Gene therapy for specific nuclear DNA mutations in development. Most children die in childhood.

Affected Countries

AustraliaBrazilCanadaCzech RepublicGermanyEgyptSpainFranceUnited KingdomItalyJapanMexicoNigeriaUnited StatesSouth Africa

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.