Spanish Researchers have managed to improve the stability of children who suffer from an metabolic disease that affects the cerebellum and causes unsteady walking, loss of motor coordination, problems of language and concentration, similar to the table produced by a drinking binge, using a drug existing costs 2 eur , the acetazolamide .
The study, published in "Annals of Neurology", has been conducted by the Hospital Sant Joan de Deu de Esplugues de Llobregat (Barcelona), and offers the first option to fight the symptoms of this condition --called PMM2-CDG (fosfomanomutasa 2)--, which invalidated the children that suffer in a major way in your daily life.
Have found that this drug, which is suitable for mountain sickness , heart failure, glaucoma, and epilepsy, is also effective for the treatment of cerebellar syndrome that causes this rare disease and that it causes these children tremors and stability problems.
The researchers of the Institut de Recerca Sant Joan de Déu and the hospital Mercedes Serrano and Antonio Martínez-Monseny raised the possibility that this drug, which is used to episodes that may resemble a heart attack but they are not --known as 'stroke-like'-- in these children, may serve to treat this disease.
For six months, in coordination with doctors from all over Spain who treat patients with this disease, the researchers provided acetazolamide to 23 children from Madrid, Galicia, Pamplona, Castile and León, Andalusia, Aragon, Canary islands, Andorra and Catalunya, affected in PMM2-CDG.
these 23, a total of 20 child improved , and after six months of treatment, half of them were withdrawn from the medication for five weeks to compare their evolution with those who continued to receive it, and to assess whether the improvement they had experienced was attributable or not to the pharmacological treatment.
The results showed that the children who had continued taking the medication remained stable, while those who stopped receiving it suffered a deterioration to the initial situation.
The pathology is caused by an error congenital metabolism and, in particular, by a congenital deficiency of glycosylation of proteins (of this group of deficiencies are already known more than 120 diseases, but the PMM2-CDG is the most frequent).
it Is a rare disease that affecting about 70 patients in Spain , and all patients with this cerebellar syndrome in different degree, so that walking unstable, speak by dragging the words and do not control the movement of hands and eyes, and 30% of these suffer a severe degree, and with multi-organ disease that can be fatal.
they are Also at a high risk of suffering episodes that may resemble a stroke (confusion, seizures and paralysis) but who are not, and require a different treatment.
These 'stroke-like' is given in some channelopathies, diseases where proteins that regulate the entry and exit of molecules in the neurons may not function properly, and in these pathologies it is effective treatment with acetazolamide, which researchers suggested that it could also be effective for children affected in PMM2-CDG.
The study has received grants from the Fundación Inocente Inocente, Torrons Vicens and the Spanish Association Syndrome CDG (AESCDG).Updated Date: 04 October 2019, 20:00