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.’
Posted on 01/03/2019