EXPLORING THE LINK BETWEEN EARLY DETECTION AND SURVIVAL OUTCOMES IN SPINAL MUSCULAR ATROPHY PATIENTS
Main Article Content
Keywords
Spinal muscular atrophy, SMN1, SMN2, diagnosis, survival, gene therapy
Abstract
Introduction: Spinal Muscular Atrophy (SMA) is a recessive neurodegenerative disorder characterized by the homozygous deletion or mutation of the SMN1 gene, responsible for producing the motor neuron survival protein (SMN). This genetic anomaly results in a deficiency of SMN production, leading to alpha (α) motor neuron degeneration, causing progressive muscle weakness and paralysis.
Objective: This study aims to explore the pathophysiology of spinal muscular atrophy, discuss potential treatments, and highlight recent advancements in our understanding of the disease.
Method: Data for this review was collected from articles available on SciELO, PubMed, and MEDLINE, providing a comprehensive overview of the current state of knowledge on spinal muscular atrophy.
Results: Treatment strategies for SMA encompass a multidisciplinary approach, including nutritional interventions, physical therapy, respiratory care, and cutting-edge gene therapy. Recent studies have contributed valuable insights into these treatment modalities, offering hope for improved outcomes.
Conclusion: Patients with spinal muscular atrophy often contend with a spectrum of conditions, necessitating comprehensive and individualized care. This review underscores the importance of ongoing research, multidimensional treatment approaches, and patient-centric care to enhance the quality of life for individuals affected by SMA.
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Paras Ali
Staff Nurse, Department of Health, LUMHS, Pakistan
Iliya Petkov
Sofia Medical University, Department of Neurology, Bulgaria
Muhammad Zulkifal
Primary Care Physician, Department of Primary and Secondary Health, Aga Khan University, Pakistan
Hammad Hassan
Mphil Scholar, Department of Life Sciences, Hubei University, China.
Essa Samuel
Medical Officers, Department of Clinical Medicine, The Stroke and Diabetes Center, Trinidad and Tobago
Dr. Michael Rutalira Koko
Epidemiologist, Department of Health, Maryland
Dr. E.N.Ganesh
Research and Development, Department of ECE, SPIHER Chennai, India,
Dr. Saja Khalid Ahmed Al-Abbasi
Medical Trainee, UAE, UMF Carol Davila University Graduate, Romania,