Canavan Disease – What it is, Symptoms and Treatments!
Canavan Disease – What it is, Symptoms and Treatments of this condition. In addition, Canavan Disease is a gene-linked neurological disorder that results in the degeneration of brain tissue. The cause of the disease is a genetic disorder that causes oligodendrocytes to remain immature and then die, thus failing to complete the synthesis of myelin sheaths. The mutation is in the gene that synthesizes an enzyme called aspartoacyclase.
What is Canavan Disease: Canavan Disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
Canavan Disease has been classified as one of the groups of genetic disorders known as leukodystrophies, but unlike most leukodystrophies. Recent research has indicated that the brain cells responsible for manufacturing myelin sheaths, known as oligodendrocytes, cannot adequately complete this critical developmental task.
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Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells . In Canavan Disease , many oligodendrocytes do not mature and instead die, leaving nerve cell projections known as axons vulnerable and unable to function properly.
Causes of Canavan Disease: Canavan Disease is passed on (inherited) through families. It is more common among Ashkenazi Jews than in the general population. The lack of the enzyme, aspartoacylin, leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter in the brain to disintegrate (deteriorate).
Symptoms of Canavan Disease: Symptoms usually begin in the first year of life. Parents tend to notice when a child doesn’t reach certain developmental milestones, including head control.
Symptoms include:
- Abnormal posture with bent arms and straight legs
- Backflow of food material into the nose (nasal regurgitation)
- power problems
- Enlarged head size (macrocephaly)
- Irritability
- Lack of head control when baby is pulled from a lying to a sitting position (head lag)
- Poor muscle tone , especially of the neck muscles
- Poor visual tracking or blindness
- reflux with vomiting
- seizures
- severe intellectual disability
- swallowing difficulties
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Treatment For Canavan Disease: Treatment is primarily aimed at relieving the symptoms of the disease. Lithium and other drugs are being investigated.