What is Canavan disease (Canavan leukodystrophy)?
Canavan's disease is a rare genetic disorder that belongs to the group of leukodystrophies - diseases in which the white matter (myelin layer) in the brain is damaged. The cause is a mutation in the ASPA gene, which is responsible for the enzyme aspartoacylase. The enzyme deficiency causes N-acetylaspartate (NAA) to accumulate in the brain, which leads to progressive damage to the nerve cells.
Typical features often appear in the first few months of life and include delayed motor development, hypotonia (reduced muscle tone), macrocephaly (enlarged head) and later weakness, spasticity and mental developmental delay.
Diagnosis is usually based on genetic testing and imaging techniques such as MRI, which show characteristic changes in the white matter.
Aids that are frequently used for Canavanz disease:
Aids and support for everyday life
As Canavan's disease is a degenerative disease, the provision of aids must be regularly adapted to changing needs:
- Positioning & head control: due to macrocephaly (heavy head) and hypotonia, special seating shells and therapy chairs with extra stable headrests and pads are essential.
- Mobility:Rehab buggies or wheelchairs with a reclining function allow the child to participate comfortably in everyday family life, even if trunk tension decreases.
- Care & comfort: A child care bed makes daily care easier and offers protection in the event of spasticity or seizures. Alternating pressure mattresses can prevent pressure sores (decubitus ulcers) when the patient's own movement decreases.
- Nutritional support: In the case of progressive swallowing disorders, mobile feeding pumps support feeding via a tube (PEG) to prevent malnutrition and aspiration.
- Sensory stimulation: As vision often deteriorates, tactile and acoustic aids are becoming increasingly important. Toys with different surfaces or vibrating elements promote perception.
Here you can find further helpful information about Canavan's disease:
ELA e.V.