Spinal Muscular Atrophy (SMA) Types I, II and III cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron 1 (SMN1), which is responsible for the production of a protein essential to the survival of lower motor neurons in the spinal cord. SMN2 is a human-specific duplication of the SMN1 gene that only partially complements the loss of SMN1.
Efficacy studies performed by JAX® In Vivo Services for SMA include various in-life measurements: body weights, survival, righting reflex, echocardiography (ECG) and electrophysiology, as well as assessment of neuromuscular junction maturation, tissue/blood collection, and increases in SMN as measured by ELISA.