Clinical, Neurological, Laboratory, and Paraclinical Features of Spinal Muscular Atrophy in Children
Year: 2025
Type: article
Abstract: Spinal muscular atrophy (SMA) is a rare but severe genetic neuromuscular disorder characterized by the progressive degeneration of motor neurons in the spinal cord and brainstem, leading to muscle weakness and atrophy. The aim of this study is to explore the clinical-neurological, laboratory, and paraclinical characteristics of SMA in children to improve diagnostic accuracy and optimize early intervention strategies. A review of available literature and clinical case data was conducted, focusing on phenotypic presentations, genetic confirmation, and supportive diagnostic methods. Clinical-neurological findings include hypotonia, symmetrical muscle weakness, delayed motor milestones, and absent deep tendon reflexes. Laboratory diagnostics are primarily based on molecular genetic testing of the SMN1 gene, supported by electromyography and muscle biopsy when necessary. Paraclinical investigations, including neuroimaging and electrophysiological studies, provide additional insights into disease progression. Early recognition of SMA-specific features is essential for timely therapeutic decisions, particularly given the availability of disease-modifying treatments. This article highlights the significance of integrating clinical, laboratory, and paraclinical data for comprehensive management of children with SMA.
Author: Hilola Nurmatova
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7082153733
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