The Impact of Living with Spinal Muscular Atrophy in Malaysia from Patients’ and Caregivers’ Perspectives. Karina Koh1 , Azlina Ahmad Annuar2, Fahisham Taib3, Koh Cha Ling4, Edmund Lim Soon Chin5 , Ch’ng Gaik Siew6 1Clinical Research Centre, Hospital Kuala Lumpur, 2Department of Biomedical Science, Faculty of Medicine, University of Malaya, 3Department of Paediatrics, Hospital Universiti Sains Malaysia, 4HELP University, Kuala Lumpur, 5Persatuan Kebajikan Ceriajaya Kuala Lumpur Dan Selangor (WeCareJourney), 6 Genetics Department, Hospital Pulau Pinang. NMRR-18-3248-42367 Introduction: Spinal Muscular Atrophy (SMA) is a recessively inherited neuromuscular disorder caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). Estimated incidence rate in Malaysia is 1 in 20,000 population with 25-50 babies born annually.¹ The clinical type of SMA is defined by the age of onset and severity of the disease, from type 0 to type 4. 2 Currently, there is no cure for SMA, but disease modifying therapies can delay disease progression. There is a lack of knowledge on SMA amongst the public and even healthcare providers, which may impact the perception of the disease and its proper management. This study aims to explore the impact of SMA on the lives and daily activities of SMA patients and their caregivers. Methods: This was a mixed method cross-sectional study consisting of; Conclusion: This 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 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. Their voices will help to inform stakeholders of areas of improvement needed in clinical practice, the education system and the society at large. Results: A total of 42 individuals participated in the quantitative survey, of whom 13 were persons with spinal muscular atrophy (PWSMA) and 29 were caregivers. After completing the survey, 7 PWSMA and 23 caregivers proceeded with the interview sessions. Table 1 summarizes the sociodemographic and characteristics of the participants. The impact of living with SMA are as shown in Table 2. The findings from the FGD and IDIs are summarized in Table 3. Characteristics PWSMA N = 13(%) Caregivers of PWSMA N = 29(%) Gender Male Female 5(38) 8(62) 11(38) 18(62) Ethnicity Malay Chinese Indian Others 7 (54) 5 (38) 1 (8) 0 22 (76) 5(17) 1 (3) 1 (3) Age (years) 10-19 20-29 30-39 40-49 50 and above 2 (14) 9 (69) 1 (8) 1 (8) 0 - 2 (7) 10 (34) 9 (31) 8 (28) SMA Type Type 1 Type 2 Type 3 0 (0) 9 (69) 4 (31) 8 (28) 11 (38) 10 (34) Table 1: Characteristic of participants Table 2: Impact of living with SMA Physical & psychosocial impact of SMA PWSMA N = 13 (%) Caregivers of PWSMA N = 29 (%) Feel stressed 7 (54) 16 (55) Feel depressed 5 (38) 6 (21) Feel anxious 5 (38) 22 (76) Feel socially isolated 4 (31) 3 (10) Unable to self transfer 7 (54) 17 (59) Unable to turn in bed 5 (38) 11 (38) Unable to manage personal hygiene 4 (31) 15 (52) Unable to attend work/school 4 (31) 8 (28) Limited social activities 4 (31) 6 (21) Unable to feed oneself 3 (23) 5 (17) Discussion: This study has initiated an important step in raising the voices of PWSMA and their families, by highlighting a number of issues and their unmet needs. The journey from diagnosis to managing their daily lives is fraught with frustrations and anxiety similar to the findings of Qian et al. ⁴ The psychosocial impact of SMA also echoes a study conducted in Denmark where all the adult PWSMA lived with anxiety and fear of progressive motor decline.5 Moving forward, there is a need for a multidisciplinary team to provide a holistic care from diagnosis to treatment, rehabilitation, and psychosocial support. Transdisciplinary collaboration and open communication between all the stakeholders of various specialties focusing on