Key clinical message: Spinal muscular atrophy (SMA) is a growing clinical concern, necessitating higher awareness and early detection. This case study focuses on the difficulties and advances in detecting and treating SMA. It emphasizes the value of early detection, interdisciplinary care, genetic testing, and novel therapeutics in terms of improving outcomes.
Abstract: Spinal muscular atrophy type 1 (SMA Type 1) is a rare genetic neuromuscular disease characterized by muscle atrophy and weakness. This case report presents the fatal outcome of a 1-year-old girl with delayed diagnosis of SMA Type 1. The child exhibited symptoms of muscle weakness and respiratory distress, which were initially overlooked. Despite a thorough examination and diagnostic tests, including genetic analysis, SMA Type 1 with a homozygous deletion in the survival motor neuron 1 (SMN1) gene was confirmed. The child received supportive measures and physiotherapy but experienced a progressive deterioration of her condition and eventually succumbed to the disease. This case underscores the challenges of diagnosing SMA and highlights the importance of early identification for appropriate management. Improved awareness, diagnostic protocols, and access to treatment options, including pharmacological drugs and gene therapy, are essential to improve outcomes for SMA Type 1 patients, particularly in resource-limited settings. Early detection through newborn screening programs and timely intervention can significantly impact the prognosis and life expectancy of SMA Type 1 children, emphasizing the need for continued research and clinical trials to establish a definitive cure.
Keywords: SMA Type 1; Werdnig–Hoffmann disease; delayed diagnosis; infant mortality; spinal muscular atrophy.
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