Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in the gene encoding survival motor neuron 1 (SMN1), which result in a degeneration of motor neurons in the spinal cord and brain stem [1]. It is the most common genetic cause of childhood mortality [2, 3], with an estimated incidence of 1 in 11,000 live births [4] and a carrier frequency of 1 in 40–60 adults [5]. It is classified in several major phenotypes based on the age of onset and maximal motor capacity achieved [6-8].

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