Spanish Society of Neurology reports high undiagnosed rates for ataxia patients

The Spanish Society of Neurology (SEN) has reported that between 40% and 50% of patients with ataxia fail to receive a definitive diagnosis. This issue is highlighted during International Ataxia Day to raise awareness of more than 300 neurological diseases that impair movement coordination and balance due to alterations in the cerebellum or its connections.

Irene Sanz, coordinator for the SEN's Commission for the Study of Ataxias and Degenerative Spastic Paraparesis, noted that the high genetic heterogeneity of these diseases, combined with unequal access to genetic testing across different autonomous communities, complicates the diagnostic process. Some patients may experience delays of over 10 years before receiving a correct diagnosis, often being misdiagnosed with other pathologies first.

In Spain, approximately 2,500 people suffer from some form of hereditary ataxia. While many forms are rare and difficult to identify, the SEN has developed an epidemiological map identifying spinocerebellar ataxia SCA3, SCA2, and Friedreich's ataxia as the most frequent hereditary types.