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Spinal muscular atrophy, or SMA, is an autosomal recessive neurodegenerative disorder
This genetic disease is characterized by degeneration of spinal cord motor neurons
leading to progressive muscular atrophy and weakness.
Most forms of SMA map to chromosome 5q. which contains the survival of motor neuron, or SMN, genes.
The structure of this region is complex, with a large, inverted duplication
SMA patients do, however, have at least one copy of the SMN2 gene.
SMN2 differs from SMN1 by only five nucleotides.
This difference does not alter the amino acid sequence.
A single C to T nucleotide transition at position 6 of exon 7
In general, the severity of the disease correlates with the number of copies of the SMN2 gene that an individual has.
What is spinal muscular atrophy?
Symptoms of Type 3 SMA
Symptoms of spinal muscular atrophy and limb girdle dystrophies
Diagnosing spinal muscular atrophy
Outcomes
Sunfish trial
Therapeutic landscape
Clinical characteristics
Impact of therapeutic agents on the natural history of spinomuscular atrophy
When to start treatment for SMA