Spinal Muscular Atrophy: Differential Diagnosis – Childhood Onset (> 6 months and older)

Spinal Muscular Atrophy: Differential Diagnosis – Childhood Onset (> 6 months and older)

Spinal Muscular Atrophy (SMA) that presents after 6 months of age will include the second most common presentation of SMA, type 2 SMA, and the least commonly observed form of childhood onset SMA, type 3.1 The typical presenting symptoms of types 2 and 3 SMA,...
Nusinersen

Nusinersen

Nusinersen (Spinraza) is the first FDA-approved, disease-modifying therapy for the treatment of spinal muscular atrophy (SMA). Nusinersen is an antisense oligonucleotide that binds to a sequence downstream of exon 7 in the SMN2 gene. The oligonucleotide blocks the...