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Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages

In this study, the authors aimed to analyze the incidences of FA-related and unrelated comorbidities occurring in different stages of the disease progression. Longitudinal data from a 10-year prospective observational study in a cohort of 175 FA patients with disease onset < 25 years were analyzed. The authors analyzed the time of diagnosis for the most frequently reported medical conditions, with respect to age and disease duration of each patient. In the early stage of the disease, scoliosis (53.3%), hypertrophic cardiomyopathy (46.7%), and pes cavus (33.3%) were the most frequently diagnosed conditions, sometimes occurring even before the onset of ataxia. Diabetes, bone fractures, and depression have the same incidence at all disease stages. In patients with > 20 years of disease duration, the most frequent complications were hearing and visual loss (20% and 26%), arrhythmias (16%), and psychosis (18%). Thirteen patients presented hallucinations/delusions in the absence of neurological acute events or mental illness predisposing to psychotic manifestations. Six of these patients fulfill the diagnostic criteria for Charles Bonnet syndrome. Incidence of FA-related medical conditions varies according to disease duration. In patients with very long disease duration, the authors observed an unexpectedly high incidence of visual and auditory pseudo-hallucinations that were not previously reported in FA patients. They hypothesized that these late complications may be possibly related to the severe sensory deafferentation syndrome observed in the advanced stages of FA disease.

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