METABOLIC DISORDERS IN SPINAL MUSCULAR ATROPHY: CURRENT EVIDENCE, PATHOPHYSIOLOGICAL MECHANISMS AND CLINICAL IMPLICATIONS: REVIEW ARTICLE

Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder primarily characterized by the degen-eration of spinal motor neurons and progressive muscle weakness. Although the disease is traditionally asso-ciated with impaired motor function, accumulating evidence suggests that metabolic abnormalities also con-tribute to its pathogenesis and clinical progression. This review aims to examine current evidence on metabol-ic disturbances in SMA, explore their underlying pathophysiological mechanisms, and discuss their potential clinical implications.

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