How Salbutamol May Help Patients with Spinal Muscular Atrophy: New Insights

How Salbutamol May Help Patients with Spinal Muscular Atrophy: New Insights

The vast majority of spinal muscular atrophy (SMA) cases are caused by a mutation in the survival motor neuron 1 (SMN1) gene, which leads to abnormally low levels of SMN1 gene products.1 Many attempts at therapy have focused on how to increase SMN levels in SMA...
Assistive Devices and Equipment: Oxygenation and Breathing 

Assistive Devices and Equipment: Oxygenation and Breathing 

Spinal muscular atrophy (SMA) is associated with serious respiratory system complications,1 and pulmonary disease is the primary cause of morbidity and mortality in both SMA type 1 and SMA type 2 patients.2 Given the frequency and extent of oxygenation and breathing...
Spinal Muscular Atrophy: Prognosis

Spinal Muscular Atrophy: Prognosis

The disease course and prognosis of spinal muscular atrophy (SMA) depends heavily on the clinical classification in a particular patient. For example, the prognosis of children with SMA type 0 is very poor while the prognosis in SMA type 4 patients is relatively good....
Disease-Modifying Therapies for Treating SMA

Disease-Modifying Therapies for Treating SMA

Until the approval of nusinersen (Spinraza), treatment for spinal muscular atrophy was largely supportive. While patients with SMA enjoy benefits from respiratory therapy, physical therapy, nutrition support, etc., these therapies are aimed at maximizing residual...