SMA is a rare and debilitating autosomal recessive neuromuscular disease characterised by motor neuron degeneration and loss of muscle strength1,2
Lower motor neurons are important cells involved in motor function7
The role of the survival motor neuron 1 (SMN1) gene is to produce SMN protein, a protein essential for motor neuron survival and which is highly expressed in the
In SMA, homozygous mutations or deletions of the SMN1 gene produce a shortage of SMN protein, which causes degeneration of motor neurons in the spinal cord.9,10
Because the presentation and progression of SMA may vary, comprehensive care involves the participation of multiple disciplines to manage the symptoms of the disease. A typical care team may involve a neurologist, respiratory physician, physiotherapist, orthopaedist and dietitian.11
Until recently, SMA management was focussed on managing complications, but with treatment now available and ongoing research into new therapeutic targets, the way SMA is managed is set to change dynamically.
Experts discuss the evolving landscape of SMA care and the place of new treatments.