Canavan disease is a rare genetic neurodegenerative disorder that affects the white matter and peripheral nerves of the brain and spinal cord.
The disease is caused by a mutation in the gene for the enzyme aspartoacylase (ASPA). Symptoms of the infantile form of Canavan disease develop at the age of 3-6 months:
– Muscle weakness and stiffness
– Macrocephaly – abnormally large head
– Developmental delay – does not sit, cannot crawl or walk
– Eating and swallowing disorders
– Motor skills and muscle movement disorders
– Delayed emotional and mental development
#Adventia – Basic panel and full panels – are genetic disease carrier screening tests that examine the carrier status of the gene mutation that causes Canavan disease.
Adventia – full panel (1 person)
Adventia – basic panel (2 person)
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