DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Fatal Familial Insomnia (FFI)

HIGH SEVERITY

An extremely rare autosomal dominant prion disease caused by D178N mutation in PRNP gene with methionine at codon 129. Characterized by progressive inability to sleep, autonomic dysfunction, and eventual death. Onset typically age 40-60.

Global Affected

50

Countries

15

Symptoms

Progressive insomnia (inability to sleep)
Autonomic dysfunction (tachycardia, hypertension)
Hyperhidrosis
Dysarthria
Ataxia
Dementia
Death within months to 2 years

Treatment Options

Specialized care
Supportive treatment
Enzyme replacement
Gene therapy
Clinical trials
Multidisciplinary management
Symptom control

Risk Factors

1Genetic mutations
2Family history
3Consanguinity
4Ethnic predisposition
5De novo mutations

Diagnostic Methods

  • 1Genetic testing
  • 2Specialized biochemical tests
  • 3Imaging
  • 4Biopsy
  • 5Clinical evaluation
  • 6Specialist consultation

Prognosis

Variable; many rare diseases have limited treatment options but research is advancing rapidly. Early diagnosis crucial for optimal management.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Newborn screening
  • Family planning

Research Status

No effective treatment. Symptomatic management only. Gene therapy and immunotherapy research ongoing. Most cases linked to Italian families. Genetic testing available for at-risk family members.

Affected Countries

AustraliaBulgariaChileGermanyFranceUnited KingdomGreeceIrelandIcelandItalyJapanPhilippinesSingaporeThailandUnited States

Sources

  • https://rarediseases.org
  • https://www.ncbi.nlm.nih.gov/books/NBK1262
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

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