ArticleOrphanet journal of rare diseases2026
Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundSpinal Muscular Atrophy (SMA) carries a heavy burden for patients and caregivers, which, in Greece, is exacerbated by resource constraints and limited care integration. To-date, there were only anecdotal descriptions of - mostly pediatric - SMA patient journey challenges. This survey amongst a population of adult patients with SMA (May – September 2023) reports on their journey’s challenges and supports advocacy to improve their experience and outcomes.
methodsA novel questionnaire was developed, which recorded basic sociodemographic characteristics, disease history, disease-related financial burden, and mapped the full patient journey per disease phase. In addition, participants self-assessed their functional autonomy and quality of life (QoL). All adults diagnosed and living with SMA were eligible to participate. Participants received an invitation by MDA to complete the questionnaire online. Multiple linear regression analysis was used to find factors associated with QoL and functional autonomy.
resultsSixty-seven adult SMA patients with a mean age of 35.9 years participated in the survey. Results confirm their complicated journey and the related financial and QoL burden the condition results in. Participants spent an average of over EUR 300 a month for their condition, primarily on physiotherapy sessions, therapy aids and food supplements, and this impacted on their QoL. Higher education was positively correlated with QoL, underlying the importance of early SMA patient integration in school life. DISCUSSION: This survey reports patient journeys of adult SMA patients and as such adds to the more extensive literature on parents’ or caregivers’ experience with pediatric SMA. There is a need to showcase adult SMA patients’ experience with care and the impact the condition has on their financial outlook and QoL. All data are self-reported. Some refer to events over a decade ago and may, thus, be affected by recall bias.
conclusionsAs SMA management evolves with the wider availability of novel treatments and patients live well into adulthood, so must healthcare systems reconsider patient pathways to ensure patients optimize use of available resources in the most efficient manner.
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