Canavan disease is a severe and incurable degenerative disease of the central nervous system. It is inherited genetically and the only way to treat it is through gene therapy. How is Canavan disease manifested? How can you moderate its course?
Canavan disease , specifically Canavan-van Bogaert-Bertrand (another name -spongif.webporm leukodystrophy ), is a spongy degeneration of the nervous system conditioned by genetically. We include them among incurable metabolic diseases. The cause of the disease can be found in the gene mutation (ASPA) responsible for the proper management of the N-acetylaspartase enzyme. When this enzyme is deficient, a brain metabolite called acetylaspartate builds up. This in turn leads to the degeneration of the white and gray matter of the brain and the gradual destruction of the brain.
Symptoms of Canavan disease
The disease may be congenital, childhood, adolescent or late (very sporadic cases). Usually, parents realize at some point that their several-month-old baby is basically not developing. Although a 3-4-month-old baby should already hold its head stiffly, it does not. He does not turn over on his stomach, and around 7 months of age, when he should sit up, he still just lies down. In addition, there are a number of other disturbing symptoms prompting the visit of countless specialists, who often make a number of misdiagnoses. A very long way and a lot of research lead to accurate diagnosis.Symptoms of congenital and childhood Canavan disease:
- bighead
- the circumference of the head grows particularly quickly between the 3rd and the 6th month of life
- flaccid child syndrome, lowering muscle tone
- delayed psychophysical development
- blindness with optic atrophy between 6-18 months
- no weight gain
- epileptic seizures
- vomiting, gastroesophageal reflux disease
- difficult or no speech
- problems with falling asleep
Generally, children with Canavan disease do not walk, talk, cannot eat by themselves, have poor eyesight (or not at all), often do not hold their heads stiffly, and their physical development is stopped at the level of a few months old baby. On the other hand, the mental one is more or less at the age-appropriate level. Parentsaffected children say they are as if trapped in their bodies. They cannot speak, but they want to communicate with the world in their own way - with minimal gestures, facial expressions.Symptoms of youthful and late characters:
- dementia
- memory loss
- vision problems leading to blindness
- paresis
Canavan disease was first described in 1931 by the American neuropathologist Myrtelle Canavan. It is inherited autosomal recessively, which means that the person affected must receive the defective gene from both the father and the mother. It happens very rarely - once in a million births, slightly more often in boys.
Canavan's disease: diagnosis
To make a diagnosis, you need to perform a number of biochemical tests, such as the concentration of NAA (N-acetylaspartase) in blood serum, urine and cerebrospinal fluid. EEG and ENG (Electroneurography).
Canavan disease treatment
Currently, we only have drugs and medicines that fight the symptoms of the disease. Due to the reduced muscle tension, various forms of rehabilitation and massages are used in therapy. Progressive vision loss is assisted by stronger and stronger glasses, and sleeping pills can help you fall asleep.
Gene therapy, which appears to be the only possible way to overcome the cause of Canavan disease, is still in its experimental phase, although it looks very promising. In the USA, it has been approved as the only method of treating children with this disease to date. It involves introducing he althy genes into the patient's brain with the help of isolated mature neural stem cells or fetal stem cells. Unfortunately, the prognosis is not optimistic yet. Children affected by Canavan's disease live an average of 3-10 years. In a milder version, it lasts longer.