Spinal muscular atrophy - new therapies, new challenges.

Abstract excerpt

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease with an autosomal recessive trait of inheritance and great variability of its clinical course - from the lethal congenital type (SMA0) to the adult-onset form (SMA4). The disease is associated with a deficiency of SMN protein, which is encoded by two genes SMN1 and SMN2. Clinical symptoms depend on mutations in the SMN1 gene. The number of...

Topics

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• Infant, Newborn
• Muscular Atrophy, Spinal
• Mutation
• Phenotype