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

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

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...

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Bibliographic Details
Main Authors: Almas Siddique, Shanzay Siddique, Erum Akhter
Format: Article
Language:English
Published: ziauddin University 2025-04-01
Series:Pakistan Journal of Medicine and Dentistry
Subjects:
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).
Online Access:https://ojs.zu.edu.pk/pjmd/article/view/3040
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