DISEASE SCANNER

Global Incurable Diseases Tracker

Back to Globe
Genetic Disorder

Angelman Syndrome

HIGH SEVERITY

A neurogenetic disorder caused by deletion or mutation of UBE3A gene on maternal chromosome 15. Characterized by severe developmental delay, speech impairment, ataxia, seizures, and happy demeanor with frequent laughing/smiling.

Global Affected

50.0K

Countries

15

Symptoms

Severe developmental delay
Minimal or no speech
Seizures
Ataxia
Happy demeanor
Frequent laughing
Hand flapping
Sleep disturbances
Microcephaly

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

Non-progressive disorder. Seizures often improve with age. Mobility may decline in adulthood. Life expectancy slightly reduced, mainly due to seizures and aspiration risk. Many live into 60s-70s.

Prevention

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

Research Status

Antisense oligonucleotide therapies ( GTX-102) in clinical trials to unsilence paternal UBE3A. Seizure management. Communication therapy. Behavioral interventions. No cure yet but promising research ongoing.

Affected Countries

AustraliaBrazilCanadaGermanySpainFranceUnited KingdomIrelandIsraelItalyJapanMexicoMalaysiaUnited 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.