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Canavan disease - causes, symptoms, diagnosis, treatment

Canavan disease - causes, symptoms, diagnosis, treatment

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Therapeutic massage

Canavan disease (spongiform degeneration of the nervous system) is classified as a degenerative disease of the central nervous system (CNS), genetically determined, incurable. It leads to degeneration of the white and grey matter of the brain.

For this disease, the only cure appears to be gene therapy, which is currently in the experimental phase. The drugs available at the moment, only combat the symptoms of the disease and not the cause.

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Symptoms and course canavan disease

The disease is very rare. The affected person must have inherited the altered/abnormal version of the gene from both one parent and the other, which is extremely rare.

The resulting spongiform lesions in the brain are the result of the accumulation of large amounts of acetylaspartate, which is produced by a deficiency of an enzyme called N-acetylaspartase. There are two main forms of the disease: the congenital and childhood form and the juvenile and adult form.

Among the symptoms characteristic of the disease are:

  • hydrocephalus
  • severely reduced muscle tone, paresis, limb spasms
  • visual problems followed by blindness
  • stunted mental development
  • stunted motor development
  • lack of weight gain, vomiting, gastro-oesophageal reflux
  • epileptic seizures

Treatment canavan disease

Diagnosis of the disease takes place after a series of biochemical tests (NAA levels in blood serum, urine, cerebrospinal fluid), neuroimaging (CT scan, MRI) and also EEG and ENG recordings.


Treatment consists of minimising and managing symptoms. There is no drug to cure the disease completely. At present, gene therapy appears to be the only way to cure.