Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

Major challenges in the clinical care of those with spinal muscular atrophy (SMA) are determining patients’ clinical stages, identifying exactly how the disease is progressing, and distinguishing SMA from other, muscular disorders. To help overcome these difficulties,...
Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

Patient and Parent Perspectives on the Use of Nusinersen for Spinal Muscular Atrophy

At the end of 2016, the U.S. Food and Drug Administration (FDA) approved nusinersen for the treatment of spinal muscular atrophy (SMA).1 Because of the high threshold for FDA approval, an abundance of data on nusinersen and its physiological effects on SMA patients...
Eosinophilic Oesophagitis in Spinal Muscular Atrophy

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

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...