DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Fibrodysplasia Ossificans Progressiva (FOP)

HIGH SEVERITY

An extremely rare genetic disorder where muscle and connective tissue progressively turns into bone (heterotopic ossification). Caused by ACVR1/ALK2 gene mutation. Flare-ups often triggered by trauma, injections, or viral illness. Second skeleton eventually restricts movement.

Global Affected

800

Countries

15

Symptoms

Great toe malformation (congenital)
Painful soft tissue swellings (flare-ups)
Progressive heterotopic ossification
Restricted joint movement
Locked jaw (ankylosis)
Respiratory compromise

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

Palovarotene (RAR gamma agonist) approved to reduce new HO formation. Avoidance of trauma, IM injections, and surgery critical. No treatment to reverse existing bone.

Affected Countries

AustraliaBrazilCanadaChinaGermanyEgyptSpainFranceUnited KingdomIndonesiaIndiaItalyJapanMTUnited 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.