2023-06-09 23:00:05
- Every June 9 marks International Batten Disease Awareness Day, also known as pediatric dementia.
- Worldwide, there is one case for every 70,000 inhabitants.
- It is characterized by causing dementia, psychomotor retardation and coordination problems in babies.
Rare diseases are often not addressed due to their low incidence, although this does not imply that they do not exist. There are too many because the catalog is too extensive and most lack sufficient research. A rather peculiar one is pediatric dementia and although very few cases are reported in the world, it is completely real.
First of all it is necessary to know the general definition. The World Health Organization (WHO) defines rare diseases as those that occur in less than five people per 10,000 inhabitants. If all the patients are added, it is estimated that there are 350 million people with a problem of this type.
Globally, it is estimated that there are at least seven thousand different ones and the majority are genetic. In the same way, the vast majority lack a cure but what there are are treatments. For this reason, an opportune diagnosis is necessary to offer the best option for each patient.
Batten disease or pediatric dementia
All of the above leads to the batten disease, also known as pediatric dementia. For your attention the National Institute of Genomic Medicine (Inmegen) It has a unique laboratory in the country. With the help of specialized personnel, it carries out studies such as the so-called massive sequencing panel to find out the causes of pathologies.
June 9 I International Day of #BattenDisease ????
Affected patients, over time, suffer cognitive decline: including seizures and a progressive loss of vision and motor skills.
#I take care of me #PorAmorALaVida pic.twitter.com/tzPiqOWOWR– HEALTH Mexico (@SSalud_mx) June 9, 2023
They also carry out genetic tests on the mothers and fathers of girls and boys to identify if one or both of them are carriers of the disease.
main symptoms
The batten disease It is characterized by causing dementia, psychomotor retardation and coordination problems. This causes difficulty in controlling the head and loss of skills that the baby had already acquired. It can present in utero or in the first six months of age.
He maintained that, in addition to these alterations, some patients also suffer seizures or epileptic seizures, neurological deterioration, delayed neurodevelopment and rapid vision loss, which increase over time.
According to the specialist Genomic Diagnostic Laboratory of this institution, Luis Leonardo Flores Lagunes, in some cases this alteration is present but does not cause health problems. With this in mind, people are only carriers but cannot pass it on to their daughters or sons.
It is estimated that, in the world, one in 70 thousand people develops this pediatric dementia. Due to its low incidence, at the national level there are no statistical data on its prevalence.
The Inmegen scientist explained that Batten is part of a group of diseases called neuronal ceroid lipofuscinosis type 2 (CLN2). Up to now, 13 variants have been recognized, and there is treatment for one of these variants, approved by the Federal Commission for Protection against Sanitary Risks (Cofepris), which delays complications.
It is an enzyme that is injected into the spinal cord to slow down the progression of the disease. However, it does not reverse the damage caused until before it is detected. In all other variants, symptom treatment is provided independently.
He International Batten Disease Awareness Day Its objective is to sensitize and inform the entire population about the existence of this disease and to provide support to those who fight against it every day.
Also read:
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