The ongoing European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) study, part-funded by Ataxia UK has released a report evaluating the clinical variability in Friedreich’s ataxia (FA) symptoms. The report specifically investigates the ‘non-ataxia’ symptoms in 650 patients with genetically confirmed FA.

The most common non-ataxia symptoms were identified to be abnormal eye movements (90.5%), scoliosis (73.5%), deformities of the feet (58.8%), urinary dysfunction (42.8%), cardiomyopathy and cardiac hypertrophy (40.3%), and decreased visual acuity (36.8%). Less common symptoms were, among others, depression (14.1%) and diabetes (7.1%). These features were additionally shown to be more common in the typical-onset group compared to the late-onset group.

The authors conclude by saying: ‘This joint European effort demonstrates the multisystem nature of this neurodegenerative disease encompassing most the central nervous, neuromuscular, cardiologic, and sensory systems. A distinct and deeper knowledge of this rare and chronic disease is highly relevant for clinical practice and designs of clinical trials.’

View more information about the EFACTS project here or to view the abstract for this particular study, please click here.

Posted on 01/03/2019