Spinal Muscular Atrophy and the Role of MicroRNA
Mutations in the survival motor neuron 1 gene (SMN1), which result in reduced expression and lower levels of the full-length SMN protein, are responsible for spinal muscular atrophy (SMA).1 Given the role that microRNAs (miRNAs) play in gene expression, it is perhaps...
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy
Spinal muscular atrophy (SMA) that co-occurs with progressive myoclonic epilepsy (PME) is a rare inherited syndrome referred to as SMA-PME. It is caused by a mutation in the ASAH1 gene, which is a gene that encodes acid ceramidase.1 ASAH1 is located on chromosome 8,...Disease Modifying Therapies in Spinal Muscular Atrophy: Preclinical Products
The therapies that are being developed for spinal muscular atrophy (SMA) generally fall into two categories: those that aim to increase levels of survival motor neuron (SMN) protein and those that are SMN-independent.1 The therapies that aim to increase SMN protein...
Spinal Muscular Atrophy: Maximizing Quality of Life
Children with Spinal Muscular Atrophy (SMA) have complex medical needs which can lead to diminished quality of life.1 Historically, patients diagnosed with SMA and their families report significant stress and a low quality of life.2-4 It is incorrect to assume that...
Spinal Muscular Atrophy: Genetic Screening
Spinal Muscular Atrophy (SMA) is an incurable, autosomal recessive inherited neuromuscular disease typified by progressive weakness and, in the most severe forms, death due to respiratory failure.1 SMA is the second most common congenital disease with an estimated...HCP — SMA News Today
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