DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Ataxia-Telangiectasia

HIGH SEVERITY

A rare neurodegenerative disorder caused by ATM gene mutations affecting DNA repair. Characterized by progressive cerebellar ataxia, ocular telangiectasia, immunodeficiency, and increased cancer risk (particularly lymphoma and leukemia).

Global Affected

20.0K

Countries

15

Symptoms

Progressive ataxia
Telangiectasia (eyes, skin)
Frequent infections
Delayed motor development
Slurred speech
Oculomotor apraxia
Premature aging
Cancer susceptibility

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

Progressive neurodegeneration. Wheelchair dependence by age 10-15. Life expectancy reduced, median age at death 25 years. Cancer is leading cause of death. Pulmonary infections contribute significantly.

Prevention

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

Research Status

No cure. Supportive care with physical therapy, antibiotics for infections. Cancer surveillance critical. Radiation and chemotherapy doses must be reduced. Life expectancy shortened; most live into 20s-30s.

Affected Countries

AustraliaBrazilCanadaGermanySpainFranceUnited KingdomIndonesiaIsraelItalyJapanMexicoPeruTurkeyUnited States

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.