Spinal Muscular Atrophy Flashcards
1
Q
define spinal muscular atrophy
A
AR condition where only one copy of SMN1 gene on chromosome 5 is present leading to loss of anterior horn cells
2
Q
presentation
A
muscle weakness
proximal skeletal muscle wasting
respiratory muscle wasting
3
Q
diagnosis
A
new-born screening (can be prevented when treatment given from birth)
4
Q
management
A
synthetic oligonucleotide which retains exon 7 in SMN2
