DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Maturity-Onset Diabetes of the Young (MODY)

MODERATE

A group of monogenic diabetes disorders characterized by early onset (usually <25 years), autosomal dominant inheritance, and beta-cell dysfunction. Multiple genetic subtypes with different clinical features and treatment responses.

Global Affected

500.0K

Countries

15

Symptoms

Mild hyperglycemia
Often asymptomatic
Family history of diabetes
Young age at diagnosis
Lack of obesity
Negative antibodies

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Excellent prognosis with proper management. MODY2 (GCK mutations) requires only lifestyle management; microvascular complications rare. MODY3 (HNF1A mutations) is very sensitive to low-dose sulfonylureas; insulin rarely needed. Other forms may require insulin or other agents. Misdiagnosis as type 1 or type 2 leads to inappropriate treatment. Genetic diagnosis allows family screening and tailored therapy. Life expectancy normal with proper management.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

MODY2 (GCK) often needs no treatment. MODY3 (HNF1A) responds excellently to low-dose sulfonylureas. Genetic testing essential for correct diagnosis and treatment. Misdiagnosed as type 1 or 2 diabetes.

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

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