Pediatria pre prax 6/2019

Spinal muscular atrophy diagnostic options and treatment

Spinal muscular atrophy (SMA) is a motor neuron disorder due to SMN protein deficiency. Up to 95 % of cases are caused by homozygous deletions in 5q13 region. Predominant features of the disease are proximal muscle group weakness and unimpaired intellect in affected children. SMA classification takes age of onset and maximum achieved motor skills into consideration. In 2017, nusinersen, belonging to antisense-nucleotide family, was approved as therapeutic option for SMA. Multidisciplinary healthcare, including pulmonary physiotherapy, correction of developing scoliosis, nutritional care and active involvement of paeditricians are all important parts of SMA treatment procedures.

Keywords: spinal muscular atrophy, diagnostics, therapy, management