DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Pompe Disease

HIGH SEVERITY

An autosomal recessive lysosomal storage disorder caused by GAA gene mutation, resulting in acid alpha-glucosidase deficiency. Glycogen accumulates in lysosomes, primarily affecting cardiac and skeletal muscles. Infantile-onset (IOPD) rapidly fatal; late-onset (LOPD) progresses more slowly.

Global Affected

5.0K

Countries

15

Symptoms

Infantile: Cardiomyopathy, hypotonia
Hepatomegaly
Feeding difficulties
Respiratory insufficiency
Late-onset: Progressive muscle weakness
Respiratory failure

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

Enzyme replacement therapy (alglucosidase alfa/Lumizyme) standard of care. Next-generation ERT (avalglucosidase alfa-ngpt/Nexviazyme) approved. Gene therapy trials ongoing. Newborn screening increasingly available.

Affected Countries

AustraliaBrazilCanadaChinaGermanySpainFranceUnited KingdomIndiaItalyJapanLUNetherlandsRussiaUnited 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.