Canavan disease is a rare genetic leukodystrophic neurodegenerative disorder that affects the white matter of the brain and spinal cord and peripheral nerves. The infantile form of the disease is more common, manifests early in life, and is fatal by adolescence. The juvenile form of the disease is milder and causes minor developmental disabilities.
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Canavan disease is common in Ashkenazi Jews and their Eastern European relatives. The incidence of the disease is 1 in 6400-13500 newborns.
Cause of the disease
Canavan disease is genetic, meaning the mutated gene that causes the disease is passed down from parent to child.
The disease is caused by a mutation in the gene for the enzyme aspartoacylase (ASPA). The enzyme aspartoacylase ensures the breakdown of N-acetyl-aspartate. In the absence of the enzyme, this substrate (N-acetyl-aspartate) accumulates in brain tissue.
People with Canavan disease have a deficiency in the enzyme aspartoacylase and a buildup of N-acetyl-aspartate. This damages the myelin sheath around nerve cells. Over time, it turns into a cloudy substance filled with fluid. This causes nerve impulses to be blocked in both ascending and descending directions.
Symptoms
Symptoms of the infantile form of Canavan disease develop from 3-6 months of age:
- Muscle weakness and stiffness
- Macrocephaly – abnormally large head
- Child's developmental delay – not sitting, turning over, crawling, or walking
- Feeding and swallowing problems
- Motor skills and muscle movement disorders
- Emotional and mental developmental delay
The condition of such children progressively worsens and by the age of 10, life-threatening pathologies develop.
- Hearing loss
- Intellectual developmental delay
- Muscle spasm
- Difficulty swallowing
- loss of sight
Patients with the juvenile form of Canavan disease experience moderate developmental delays, with delays in speech and academic performance.
Diagnosis
Canavan disease can be diagnosed by identifying the gene mutation in an embryo or an already born child.
It is also possible to determine the carrier status of the mutated gene in parents to determine the risk of developing the disease in offspring.
Treatment
There is no cure for Canavan disease. Current therapies are aimed at managing symptoms and improving the patient's quality of life.
Prevention
Canavan disease (as with any genetic recessive disease) cannot be prevented, but carrier screening tests can determine whether parents are carriers of the disease-causing gene mutation, allowing for informed decisions.
Laboratory "Synevo" offers screening for genetic diseases:
| Name of the test | Category | Price | CODE | Response time (working day) ** | Location of the analysis **** | Buy | hf:tax:product_cat |
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Order tests online
Source:
https://my.clevelandclinic.org/health/diseases/6013-canavan-disease
