Spinal Muscular Atrophy: Genetic Counseling
Spinal Muscular Atrophy (SMA) is an incurable, inherited neuromuscular disease typified by progressive weakness and, in the most severe forms, death due to respiratory failure.1 SMA is the second most common congenital disease with an estimated worldwide incidence of...
SMN1-negative variants resembling Adult Onset SMA
Spinal Muscular Atrophy (SMA) is a congenital motor neuron degenerative disorder typically resulting from loss of the SMN1 gene on chromosome 5q13.1 While homozygous loss of SMN1 has been reported to account for anywhere from 95%2 to approximately 50%3 of cases with...
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 (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...HCP — SMA News Today
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