Pharmacological management of spinal muscular atrophy

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Absztrakt

Spinal muscular atrophy is an autosomal recessive inherited disease, which associate with SMN gene mutation. It presents with a wide range of symptoms from weakness, and fatigue of muscles to non-ambulatory, and death. Currently, there is no complete cure therapy. However, FDA has approved Nusinersen as a standard treatment. Additionally, with direct-to-genetic treatments, pharmacological management for spinal muscular atrophy has shown a promising future.

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spinal muscular atrophy, smn1 gene, nusinersen, zolgensma
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