A critical review of patient and parent caregiver oriented tools to assess health −related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder due to mutations in the SMN1 gene, causing degeneration of motor neurons in the spinal cord, with subsequent muscle wasting and weakness. In the last few years there have been exciting advances with revised standards of care and clinical trials using different therapeutic approaches such as antisense oligonucleotides [1,2], small molecules or gene therapy [3], showing increased life expectancy and functional and respiratory improvements.

Source: Neuromuscular Disorders - October 21, 2019 Category: Neurology Authors: Sonia Messina, Anna Lia Frongia, Laura Antonaci, Maria Carmela Pera, Giorgia Coratti, Marika Pane, Amy Pasternak, Matthew Civitello, Jacqueline Montes, Anna Mayhew, Richard Finkel, Francesco Muntoni, Eugenio Mercuri, ISMAc group Tags: Review Source Type: research