DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Niemann-Pick Disease

HIGH SEVERITY

A group of lysosomal storage disorders affecting lipid metabolism. Types A and B caused by SMPD1 deficiency (acid sphingomyelinase). Type C caused by NPC1 or NPC2 gene mutations affecting cholesterol transport. Types A and C have severe neurological involvement.

Global Affected

3.0K

Countries

15

Symptoms

Hepatosplenomegaly
Hypotonia
Developmental regression
Vertical gaze palsy (NPC)
Ataxia
Seizures
Cataplexy (NPC)

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

Olipudase alfa (enzyme replacement) approved for ASMD (Types A/B). Miglustat approved for NPC. Cyclodextrin (HPBCD) intrathecal for NPC. Gene therapy trials ongoing.

Affected Countries

AustraliaBrazilCanadaChinaGermanySpainFranceUnited KingdomIndonesiaIndiaItalyJapanPeruUnited StatesVietnam

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.