ArticleOrphanet journal of rare diseases2022
A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients' and caregivers' perspectives.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Psychological symptoms in individuals with Spinal Muscular Atrophy (SMA) and their caregivers - results from a nation-wide study in Germany.Orphanet journal of rare diseases · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia.International journal of neonatal screening · 2026Review
- Review
- "…They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.BMC palliative care · 2025Article
- Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens.Journal of personalized medicine · 2023Article
- Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study.Translational pediatrics · 2022Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal Muscular Atrophy (SMA) is a rare, recessively inherited neuromuscular disorder that causes progressive muscle weakness. There is a low degree of awareness about SMA amongst the public and healthcare providers, which may impact the perception of the disease and its proper management. To understand how this lack of awareness may have affected diagnosis, care and support for SMA patients and their caregivers, this study aims to investigate the impact of SMA on the lives and daily activities of SMA patients and their caregivers in Malaysia.
methodsNationwide recruitment was carried out via invitations coordinated by a local SMA advocacy organization. A mixed method cross-sectional study consisting of a self-administered questionnaire followed by in-depth interviews (IDIs) and focus group discussions (FGDs) was conducted. The interview sessions were audio-taped, and verbatim transcripts analyzed thematically.
resultsParticipants reported feeling stressed, anxious and depressed. There were issues with delayed diagnosis, lack of information from healthcare professionals about the disease progression, and limited access to supportive services like physiotherapy. Participants expressed their concerns living with self-doubt and turmoil with having to modify their lifestyles, relationships with family and friends, and challenges with educational and career opportunities. Various themes of their hopes for the future touched on having access to treatment, clinical trials, holistic care for symptom management, as well as improving infrastructure for disability access.
conclusionThis study, to the best of our knowledge represents the first comprehensive study on SMA in South East Asia, highlights a plethora of issues and challenges experienced by persons with spinal muscular atrophy (PWSMA) and their caregivers in Malaysia, from the point of SMA diagnosis and throughout the management of care, in addition to the deep psychosocial impact of living with SMA. The significant findings of this study may contribute to a better understanding among stakeholders to make improvements in clinical practice, the education system, the work environment as well as holistic care support and society at large.
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