Spinal muscular atrophy
Copyright policy )Spinal muscular atrophy
Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons associated with muscle paralysis and atrophy. Childhood SMA is a common recessive autosomal disorder and represents one of the most common genetic causes of death in childhood. The pathophysiology remains unknown, and no curative treatment is available so far. The last 10 years have seen major advances in the field of SMA, which are starting points towards understanding the SMA pathogenesis and developing therapeutic strategies for this devastating neurodegenerative disease.
- Inserm France
- University of Évry Val d'Essonne France
- French Institute of Health and Medical Research France
RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Muscular Atrophy, Spinal, Chromosomes, Human, Pair 5, Humans, Point Mutation, Cyclic AMP Response Element-Binding Protein, Muscle, Skeletal, Gene Deletion
RNA-Binding Proteins, Nerve Tissue Proteins, SMN Complex Proteins, Muscular Atrophy, Spinal, Chromosomes, Human, Pair 5, Humans, Point Mutation, Cyclic AMP Response Element-Binding Protein, Muscle, Skeletal, Gene Deletion
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