DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Neuronal Ceroid Lipofuscinosis (NCL)

HIGH SEVERITY

A group of progressive neurodegenerative disorders (Batten disease) causing accumulation of lipopigments in neurons. Multiple types with different ages of onset. Cause blindness, seizures, dementia, and premature death.

Global Affected

14.0K

Countries

15

Symptoms

Vision loss
Seizures
Developmental regression
Dementia
Movement disorders
Behavioral changes
Premature death

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. Progressive neurodegeneration. Infantile form: death by age 3-4. Late infantile: death by age 8-12. Juvenile: death by age 15-25. Adult form: slower progression, may survive into 50s.

Prevention

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

Research Status

Enzyme replacement (Brineura) for CLN2. Gene therapy trials ongoing. Supportive care. Seizure management. No cure for most types. Clinical trials of novel therapies.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoNigeriaSouth AfricaIndiaChina

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.