DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Menkes Disease

HIGH SEVERITY

A rare X-linked disorder of copper metabolism caused by ATP7A mutations. Copper deficiency leads to progressive neurodegeneration, connective tissue abnormalities, and distinctive kinky hair. Fatal in early childhood without treatment.

Global Affected

5.0K

Countries

15

Symptoms

Kinky, steel wool hair
Hypothermia
Hypotonia
Seizures
Developmental delay
Failure to thrive
Connective tissue abnormalities
Bladder diverticula

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

Poor without early treatment. Death by age 3 typically. Early copper histidine may improve outcomes if started within 28 days.

Prevention

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

Research Status

Subcutaneous copper histidine injections if started early (<10 days) can improve outcomes. Gene therapy in development. Most untreated patients die by age 3. Newborn screening allows early intervention.

Affected Countries

AustraliaBrazilCanadaChileGermanyDenmarkSpainFranceUnited KingdomItalyJapanMexicoNigeriaUnited StatesSouth Africa

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.