Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with Spinal Muscular Atrophy compared to Standard of Care guidelines

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a mutation or absence of the 5q13 survival motor neuron (SMN1) gene, impacting 1 in every 6-10,000 infants [1, 2]. Clinical presentation includes progressive muscle atrophy and weakness while intellect and sensation remain intact [3]. Childhood-onset SMA is classified into three primary phenotypes, SMA Types 1-3, based on age of onset and highest motor function achieved. Individuals with Type 1 present with steep declines in motor and respiratory function in the first 12 months of life and are commonly classified as “non-sitters” as they are unable to sit unsupported [2].

Source: Neuromuscular Disorders - February 15, 2021 Category: Neurology Authors: Jessica Trenkle, Jessica Brugman, Anne Peterson, Katherine Roback, Kristin J. Krosschell Source Type: research