Sleep and Fatigue in Friedreich’s Ataxia (P1.072)

Objective: Assess sleep and fatigue in Friedreich’s Ataxia(FA). Background: FA is a recessive, neurodegenerative ataxia which affects approximately 1/50,000 people. It affects cells in the sensory ganglia, spinal cord and cerebellum and results in progressive and debilitating neurologic symptoms. In addition, patients experience poorly characterized systemic symptoms such as impaired sleep, obstructive sleep apnea(OSA), restless legs syndrome(RLS), and fatigue. Design/Methods: Adult subjects, residing in the USA, with a self-reported diagnosis of FA were recruited from the FA Research Alliance(FARA) registry to participate in an online survey. Subjects provided demographics, disease state information, and completed the Pittsburgh Sleep Quality Index(PSQI), Fatigue Severity Scale(FSS), and Visual Analog Fatigue Scale(VAFS). Results: Of 171 participants, 42% were male, average symptom onset was 17.9y(range 4–51), disease duration was 20.3y(range 2–61), and current age was 38.3y(range 9–77). Average sleep latency was 31.6(range 2–180), average sleep duration was 7.4h(range 2–12). OSA was endorsed by 16.4%, RLS by 29.8%, and any sleep disorder by 19.9%. Only 25.7% had a sleep study and 20.5% had seen a sleep provider. Presence of OSA correlated with male gender, increased age, disease duration, and FA functional stage. RLS did not. Average VAFS score was 4.71(0=worst fatigue, 10=normal). Presence of OSA, RLS, or other sleep disorders did not predict VAFS score. Smaller GAA repeat expansion correlated with older age of onset and better functional capacity but also with a higher risk of OSA and other sleep disorders. Conclusions: FA patients reported significant fatigue and impaired sleep quality. Insomnia was not significant. OSA and RLS were more prevalent in FA than the general population. Expected demographic factors correlated with higher risk of OSA but not RLS. GAA repeats did not correlate as expected with a higher risk of sleep disorders but this sub-population was younger, less disabled, and less affected by sleep disorders than the overall study population. Disclosure: Dr. Patterson has nothing to disclose. Dr. Almeida has nothing to disclose. Dr. Hastings has nothing to disclose. Dr. Farmer has nothing to disclose. Dr. Subramony has nothing to disclose.