DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Hutchinson-Gilford Progeria Syndrome

HIGH SEVERITY

An extremely rare, fatal genetic disorder causing premature aging in children. Caused by LMNA gene mutation producing progerin. Autosomal dominant, usually de novo mutations. Average lifespan 14.5 years. Death typically from cardiovascular complications.

Global Affected

400

Countries

15

Symptoms

Severe growth failure
Alopecia (hair loss)
Stiff joints
Hip dislocation
Accelerated atherosclerosis
Aged appearance (progeroid features)
Stroke and heart disease

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

Lonafarnib (farnesyltransferase inhibitor) approved, extends median survival by ~2.5 years. Gene therapy trials ongoing. Progeria Research Foundation facilitates clinical trials.

Affected Countries

AustraliaBrazilCanadaChinaGermanySpainFranceUnited KingdomIsraelIndiaItalyJapanMexicoNigeriaUnited 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.