it’s 25th september international ataxia day, a term generally used to describe any impairment in a person’s ability to coordinate muscles when performing voluntary activities. More than 200 types have been described.
“Ataxia can have various causes,” explain it Dr. Irene SanzCoordinator of the Study Commission on Degenerative Spastic Ataxias and Paraparesis (CPED) of the Spanish Society of Neurology (SEN). “Although some can be acquired due to various factors such as injuries, neurological disorders or other diseases; Others are hereditary and, in these cases, we are talking about a group of more than 100 neurodegenerative diseases that are classified according to the inheritance pattern: autosomal dominant, also known as SCA; or recessive, linked to the
Hereditary ataxias, therefore, are a group of neurological diseases whose predominant symptom is basically muscle incontinence, which will generally be progressive and which, in many people, will compromise their autonomy and life expectancy. Ataxia can affect different parts of the body, so among the most typical problems, in addition to loss of coordination of the legs, difficulty balancing and walking, there is also loss of coordination of the muscles of the arms and legs. Hands, speech disorders, difficulty swallowing and/or eye movement disorders. The Spanish Society of Neurology (SEN) estimates Currently about 2,500 people in Spain are affected by some form of hereditary ataxia,
In any case, overall, hereditary ataxia mostly affects young adults. And, to date, more than 100 different genes have been identified whose mutations may be behind these diseases. However, SEN estimates that a definitive genetic diagnosis has not yet been achieved in approximately 48% of cases.