September 25 is International Ataxia Day . It is a disorder that decreases the ability to coordinate movements and can also be used as a term to refer to any of the more than 200 diseases of the nervous system that have these symptoms. It is estimated that in Spain about 8,000 people suffer from some type of hereditary ataxia .
As explained by the coordinator of the Commission for the Study of Degenerative Spastic Ataxias and Paraplegia of the Spanish Society of Neurobiology (SEN), Francisco Javier Arpa Gutiérrez “only with the term hereditary ataxia encompasses more than 200 types of congenital, metabolic diseases, due to to defects in DNA repair, mitochondrial, channelopathies and due to the defect in the configuration and degradation of proteins. This great heterogeneity conditions that a very low percentage of these diseases be diagnosed etiologically (with a well-founded cause) and that their future treatment be achieved It is also difficult. In fact, according to the same doctor, ” approximately only 11% of ataxias have a known etiological diagnosis, so improving in this aspect is absolutely necessary if we want to develop future treatments ,” he explains.
Hereditary ataxias are usually progressive and do not usually have a definitive curative treatment, in addition to being very disabling . Doctors have divided them according to their inheritance so that they can be autosomal dominant (such as spinocerebellar ataxias, also called SCA), autosomal recessive (such as Friedreich’s ataxia), ataxias related to mitochondrial disease, and X-linked. However, each disease and its degree of progression depends on many other factors, such as the environment, the individual’s genetics, and so on.
Today there are five centers in Spain dedicated to hereditary ataxias and paraplegia, the La Fe University Hospital in Valencia, the La Paz University Hospital in Madrid, the Marqués de Valdecilla University Hospital in Santander and the Hospital Clínic and Sant Joan de Déu de Barcelona, although the SEN points out that another two or three centers would be needed to offer optimal care.
