Two Siblings with SMA Receive Gene Therapy

Emily Holtvluwer discusses the gene therapy her two children with spinal muscular atrophy (SMA) have received.

As Ms. Hotvluwar explains, her oldest child was diagnosed several months after symptoms began to appear while her second child was diagnosed in utero and received gene therapy (zolgensma) soon after birth. Her son has shown no signs of SMA and is meeting normal milestones. Her older daughter does show some symptoms but no progression of the disease since starting therapy.

SMA is a rare inherited neuromuscular disorder due to low levels of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances that leads to motor neuron deterioration. Several treatments are available, including the newly approved gene therapy, zolgensma.