The Life-Saving Impact of Early Diagnosis and Treatment for Spinal Muscular Atrophy Type 1

Abstract

Spinal muscular atrophy (SMA) is a hereditary neuromuscular condition caused by mutations in the Survival Motor Neuron 1 gene. This report presents a clinical description of a case diagnosed with SMA and highlights the significance of early recognition and multidisciplinary management. SMA affects the anterior horn cells in the spinal cord, leading to progressive muscle weakness and atrophy. It is classified into four types based on the age of onset and clinical severity. Type 1 SMA, also known as Werdnig-Hoffmann disease, is the most severe form and generally manifests within the first six months of life. A boy was suspected of having SMA type 1 due to his hypotonic posture and 2.8 kg birth weight. Symptomatic treatment and diagnostic tests like MRI were done, but the infant died after a few days of readmission on day 28 due to severe breathing issues and muscular atrophy. The diagnosis was confirmed after his death.

Keywords

• Spinal Muscular Atrophy (SMA), Werdnig-Hoffmann Disease, Motor Neuron Disease, Muscle Weakness, Hypotonia, Respiratory Insufficiency, Electromyography (EMG), Infantile Spinal Muscular Atrophy, Creatine Kinase (CK-MB).