Every September 25, International Ataxia Day is observed, a date that highlights a group of rare neurological diseases affecting coordination and balance. Although they do not all progress in the same way, they share a particularly challenging hurdle: for many people, learning what they have can become a journey that lasts for years.
The Spanish Society of Neurology (SEN) estimates that around 2,500 people in Spain suffer from some form of hereditary ataxia. However, between 40% and 50% do not receive a definitive diagnosis and, in some cases, the waiting time can exceed ten years.
When the body begins to fail without anyone knowing why
Ataxia is not a single disease, but a term that encompasses numerous conditions that disrupt coordination due to dysfunction of the cerebellum or its connections. Some are acquired, linked to nutritional deficits, immune alterations, medications or other illnesses, while others are degenerative, many of genetic origin.
That diversity complicates diagnosis. Symptoms can emerge slowly and vary greatly among individuals: difficulty walking or maintaining balance, clumsiness in performing precise movements, problems with speech, abnormalities in eye movements, or trouble swallowing.
“Patients can present symptoms for years before receiving a correct diagnosis, be initially diagnosed with other conditions, or consult several specialists before reaching a neurology unit,” explains Dr. Irene Sanz, coordinator of the Commission for the Study of Ataxias and Degenerative Spastic Parapareses of the SEN. She adds that in some cases, the diagnostic delay can exceed a decade.
The test that can name what is happening
Once acquired causes are ruled out, genetic testing becomes a key tool in trying to identify the origin of ataxia. The challenge is enormous: there is substantial genetic heterogeneity and still-causing genes remain to be discovered, so a negative test does not always allow the case to be closed.
Moreover, access to these tests is not uniform across all autonomous communities, a factor that can influence the time to obtain a definitive diagnosis. The SEN links this inequality of access, together with the still incomplete knowledge of genetic causes, to the fact that up to half of patients remain without a conclusive diagnosis.
Naming the disease is not just an administrative issue.
It can guide medical follow-up, help assess the risk for other relatives, facilitate access to specialized units, and determine whether a person may benefit from a specific treatment or a clinical trial.
Does ataxia have a treatment?
There is currently no cure for most ataxias, so the approach typically centers on managing symptoms, preventing complications, and preserving autonomy and quality of life. Physical therapy, occupational therapy, and multidisciplinary team follow-up play a significant role in this process.
Some forms do have targeted options. In Friedreich’s ataxia, the Ministry of Health lists omaveloxolona, marketed as Skyclarys for adults and adolescents from the age of 16, always under specific clinical criteria and with a confirmed genetic diagnosis.
“Although we still do not have a cure for most ataxias, improving diagnosis and ensuring a multidisciplinary approach can have a very important impact on the evolution and the quality of life of patients,” concludes Dr. Sanz.
