Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder caused by survival motor neuron (SMN) protein deficiency leading the loss of motor neurons in the anterior horns of the spinal cord and brainstem.
Great progress has been made in the clinical translation of several therapeutic strategies for spinal muscular atrophy (SMA), including measures to selectively address Survival Motor Neuron (SMN) protein deficiency with SMN1 gene replacement or modulation of SMN2 encoded protein levels, as well as neuroprotective approaches and supporting muscle strength and function.
Spinal muscular atrophy (SMA) is a neurodegenerative disorder that results from mutations in the SMN1 gene, leading to survival motor neuron (SMN) protein deficiency.
SMNprotein deficiency preferentially affects α- motor neurons, leading to their degeneration and subsequent atrophy of limb and trunk muscles, progressing to death in severe forms of the disease.
Emerging evidence suggests that SMNprotein deficiency also affects the heart, autonomic nervous system, skeletal muscle, liver, pancreas and perhaps many other organs.Currently, there is no cure for SMA.
Severe SMA mice have abnormal motor function and small, immature myofibers early in development suggesting that SMNprotein deficiency results in retarded muscle growth.