A Case of Spinal Muscular Atrophy Type 2 in a Child: A Genetic Condition Rarely Detected in Primary Care
Siti Mariam Abu Hussain
Nur Amirah Shibraumalisi
Hayatul Najaa Miptah
Anis Safura Ramli
Department of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Jalan Hospital, Sungai Buloh, Selangor, Malaysia
Spinal muscular atrophy (SMA) is a neurodegenerative disease affecting 4 out of 10,000 live births. It is an autosomal recessive genetic condition caused by mutations of the survival motor neuron gene 1 (SMN 1 ), located at chromosome 5q. There are five types of SMA, from Type 0 to Type 4. Depending on the types, SMA can cause severe disability and death. This case report presents a case of a six-month old baby boy with gross motor developmental regression. There was a missed opportunity to detect this case in primary care. The baby was referred by a private paediatrician to a government hospital’s outpatient paediatric clinic for losing his ability to roll over, lift his buttocks, and sit without support. Genetic testing confirmed the diagnosis of SMA Type 2. Receiving the diagnosis and caring for a child with SMA is a life-changing event for the parents and caregivers. The availability of gene therapy may change the prognosis and outcome of patients with SMA and should be offered if available. This case highlights the impact of the child’s illness on the family and the importance of a multidisciplinary team approach in managing SMA. Primary care physicians play a key role in conducting thorough child health surveillance to ensure early identification and providing support to the child and the parents holistically as the disease progresses into adulthood. This includes providing long-term psychosocial support to improve their quality of life.
Author Biography
Anis Safura Ramli, Department of Primary Care Medicine, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Jalan Hospital, Sungai Buloh, Selangor, Malaysia
Anis Safura Ramli graduated with MBBS from Newcastle University, United Kingdom in 1997. She pursued her specialist primary care training in England and subsequently obtained the Membership of the Royal College of General Practitioners (MRCGP), UK. She joined the Faculty of Medicine, Universiti Teknologi MARA (UiTM) as a Senior Lecturer in 2005 and successfully established the Department of Primary Care Medicine. She was the Head of Department from 2005 - 2015. Under her leadership, the Department has successfully put together the curriculum, teaching and clinical service infrastructure for the undergraduate and postgraduate programmes in primary care. She was awarded the UiTM Excellence Service Award in 2006, 2011, 2013 and the Deputy Vice Chancellor Research & Innovation Excellence Award in 2022. Anis Safura Ramli completed her subspecialty training in Chronic Disease Management at Monash University, Australia and was awarded a Fellowship in 2010. She was selected to represent Malaysia in the Young Physician Leaders Programme in 2011 and 2016 - a leadership training and networking programme by the InterAcademy Partnership for Health, a global network of science & medical academies. Anis Safura Ramli was promoted to Associate Professor in 2010 and to the Professor post in 2017. Prof. Dr. Anis Safura Ramli is currently the Deputy Dean for Research and Innovation, Faculty of Medicine, UiTM. She was the Deputy Director and Principal Fellow of I-PPerForM, a research Centre of Excellence (CoE) for six years from 2017 to 2023. Her niche area is in the cardiovascular disease prevention and risk management – particularly the metabolic syndrome and familial hypercholesterolaemia. Prof. Dr. Anis Safura Ramli has vast experience in leading research team as a principal investigator of national and international grants. She has established an international research collaboration with the University of Nottingham, UK and has published numerous scientific research papers in international high impact journals. Prof. Dr. Anis Safura Ramli has also won several research and innovation awards at national and international levels, including UiTM Best Researcher Award at AAU 2020 and Gold Medal Award at ITEX 2021. Her special interests include e-health intervention research, health service research and primary care reform. She was appointed by the Ministry of Health Malaysia as an expert panel to prepare the blueprint for the restructuring of the Malaysian primary health care system in 2008 – 2012, and also as an academic member of the Governance, Monitoring and Evaluation Committee (GMEC). She is an active member of her profession having served in the councils of the Academy of Family Physicians of Malaysia (AFPM), Family Medicine Specialist Association (FMSA) and the Malaysian Society of Hypertension (MSH). She has been invited as a plenary and symposium speaker at various national and international scientific conferences.
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