Background Spinal Muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder leading to progressive muscular weakness. β-adrenergic agonists have a positive effect on myometry, forced vital capacity and lean body mass for SMA II as confirmed in a pilot study as well as increasing mRNA and SMN protein in SMA fibroblasts.1 2 We observed how β-adrenergic agonists in two patients with advanced SMA type II led to them being able to use hand held computer devices, (a Nintendo DS) when previously they had been unable to do so.
Methods Lung function test performed before and 4–6 months after the commencement of oral Salbutamol (2 mg tds). We found that Hammersmith motor function scale was not useful for patients in their advanced stage.
Findings Patient A (Female 10 years old), B (Male 7 years old).
Conclusion After 6 months of oral salbutamol, there are significant improvement in their forced lung capacity. Their neck and upper limb strength increased as did as their ability to hold their heads steady and by themselves operate for the first time the hand held device (weight 450 g). This new ability has significantly improved their social quality of life. Oral salbutamol was well tolerated with no reported adverse effect. Our observations in these two cases suggest salbutamol may be beneficial even in SMA type II with advanced neurological impairment and that rating scales of muscle function should consider taking into account use of hand held devices, which are increasingly common and important in children and adolescent's lives.
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