SMA1 Clinical Program
About SMA1
Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease that affects motor neurons in the spinal cord and adversely affects the skeletal muscles. Progressive muscle weakness impairs breathing, eating, crawling/walking, and other activities. SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1), and it follows an autosomal recessive pattern of inheritance. The global incidence of all types of SMA, whose severity is modulated by the number of SMN2 gene copies, is approximately 1:10,000 live births.
SMA Type 1 (SMA1) is a very severe form with early onset and diagnosis occurring at less than 6 months of age. Untreated SMA1 patients do not survive beyond 18 months of age. SMA1 patients typically have 1-2 copies of the SMN2 gene. The global incidence of SMA1 is approximately 1:17,000 live births.
Photo credit: Levi Gershkowitz