DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Genetic Disorder

Neurofibromatosis Type 2

HIGH SEVERITY

An autosomal dominant disorder caused by NF2 gene mutations, characterized by bilateral vestibular schwannomas (acoustic neuromas), other nervous system tumors, and cataracts. Less common but more severe than NF1.

Global Affected

150.0K

Countries

15

Symptoms

Bilateral hearing loss
Tinnitus
Balance problems
Facial weakness
Cataracts
Spinal tumors
Brain tumors
Skin tumors

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

Bilateral vestibular schwannomas cause deafness and balance issues. Other CNS tumors develop. Life expectancy 60-70 years. Bevacizumab for tumor control.

Prevention

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

Research Status

Bevacizumab (anti-VEGF) shows hearing improvement. Surgery and radiosurgery for tumors. Auditory brainstem implants for hearing restoration. Regular MRI surveillance. Clinical trials of novel agents ongoing.

Affected Countries

AustraliaBrazilCanadaGermanyEESpainFranceUnited KingdomItalyJapanMexicoRussiaSlovakiaTaiwanUnited 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.