P.061 The value of AVXS-101 gene-replacement therapy for Spinal Muscular Atrophy Type 1 (SMA1)

The changing natural history of spinal muscular atrophy type 1.

BACKGROUND Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990 s. This is expected to have improved survival for SMA type 1 patients. OBJECTIVE To assess whether there has been a change in survival in patients with SMA type 1 between 1980 and 2006. METHODS We used deidentified, family-reported data from participants in the...

Splice-Switching Therapy for Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetic disorder with severity ranging from premature death in infants to restricted motor function in adult life. Despite the genetic cause of this disease being known for over twenty years, only recently has a therapy been approved to treat the most severe form of this disease. Here we discuss the genetic basis of SMA and the subsequent studies that led to t...

Spinal Muscular Atrophy: A Short Review Article

Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...

Spinal muscular atrophy: from gene and modifiers to therapy

Spinal muscular atrophy type 1 quality of life.

OBJECTIVE To compare healthcare professionals' assessment of the quality of life of spinal muscular atrophy type 1 children with that of the care providers for the children. DESIGN The care providers of all 53 surviving spinal muscular atrophy type 1 children managed in one neuromuscular disease clinic were sent Likert-scale surveys of six quality of life issues and ten polar-adjective pairs....