Clinical Significance: |
Spinal muscular atrophy is a family of rare disorders in which muscle denervation causes atrophy of muscle. Consider this test for patients with an atypical clinical presentation or normal SMN gene testing. This test includes sequencing of 10 genes including BICD2, DYNC1H1, GARS, HSPB1, HSPB3, HSPB8, IGHMBP2, TRPV4, UBA1, and VRK1. Genes in this panel have been associated with distal SMA, late onset SMA, SMA with respiratory distress, scapuloperoneal SMA, SMA with arthrogryphosis, and SMA with pontocerebellar hypoplasia.
Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures. |