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. 2023 Feb 21;100(8):e808-e821.
doi: 10.1212/WNL.0000000000201598. Epub 2022 Nov 28.

Patient-Reported Impact of Symptoms in Friedreich Ataxia

Jamison Seabury  1 , Danae Alexandrou  1 , Nuran Dilek  1 , Brittany Cohen  1 , John Heatwole  2 , Jane Larkindale  1 , David R Lynch  1 , Courtney Park  1 , Spencer Rosero  1 , Sub H Subramony  1 , Anika Varma  1 , Ellen Wagner  1 , Susan Walther  1 , Jennifer Weinstein  1 , McKenzie Wells  1 , Christine Zizzi  1 , Chad Heatwole  2
Affiliations

Patient-Reported Impact of Symptoms in Friedreich Ataxia

Jamison Seabury et al. Neurology. .

Abstract

Background and objectives: To determine the prevalence and relative importance of symptoms experienced by children and adults with Friedreich ataxia (FA) and to identify factors associated with a higher burden of disease.

Methods: We conducted qualitative interviews with individuals with FA and caregivers of pediatric individuals with FA to identify potential symptoms of importance to those living with FA. We subsequently performed a cross-sectional study to assess which symptoms have the highest prevalence and importance in FA and to determine which factors are associated with a higher burden of disease.

Results: Thirty-nine participants provided 2,527 quotes regarding the symptomatic burden of FA. Two hundred two individuals (153 individuals with FA and 49 caregivers) participated in a subsequent cross-sectional study. Individuals with FA and caregivers identified impaired coordination, limitations with mobility and walking, inability to do activities, fatigue, and lower extremity weakness as the most prevalent and life-altering symptomatic themes in FA. Muscle stiffness and functional staging for ataxia were associated with the prevalence of symptomatic themes in FA. In addition, the length of smaller GAA expansion and the mean length of both GAA expansions were strongly associated with the onset of symptoms in FA.

Discussion: There are a wide variety of symptoms that affect the lives of individuals with FA. These symptoms, many underrecognized, have different levels of importance and occur at different rates in the FA population. The most common and life altering of these symptoms represent potential targets for future therapeutic interventions.

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Figures

Figure 1
Figure 1. Prevalence and Average Impact of Symptomatic Themes Reported by Individuals With Friedreich Ataxia
Figure 2
Figure 2. Prevalence and Average Impact of Symptomatic Themes Reported by Friedreich Ataxia Caregivers
See this image and copyright information in PMC

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