CANAVAN DISEASE

CHROMOSOMES

• The Canavan disease is caused do to the disruptions or changes to the aspartoacylase (ASPA) gene
• Mutation is inherited as an autosomal recessive trait

NATURE OF DISORDER

• Usually obvious between 3 and 6 months
• Signs/symptoms:
• Abnormal large head, poor head control, diminished muscle control, unable to sit, speak, crawl, walk

AFFECTED POPULATIONS

• Ashkenazi Jews
• Men and female equally likely
• The carrier frequency in Ashkenazi Jews is 1 in 6,400 and 1 in 13,456

LIFE EXPECTANCY/ CHALLENGES

• Their life expectancy is 10 years and very few make it into their teens and twenties
• Cannot communicate well, hard to crawl, sit, or walk, possible swallowing problems

DIAGNOSIS

• Characteristic findings of disorder, detailed patient history
• Tests include, gas chromatography-mass spectrometry (a device that can detect elevated levels of NAA in urine)
• NAA (N-ascetylaspartic acid or N-acetylaspartate)

TREATMENTS

• Physical therapy (strengthening leg muscles)
• Early intervention ( early treatment and diagnosis)
• Feeding tubes
• Anti-seizure medicine

POSSIBLE TREATMENTS

• Gene therapy (healthy ASPA genes inserted into the brains of affected children)

WEBSITES CITED

• https://rarediseases.org/rare-diseases/canavan-disease/
• http://www.canavanfoundation.org/about_canavan_disease
• https://radiopaedia.org/articles/canavan-disease