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...
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy

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...
Spinal Muscular Atrophy: Maximizing Quality of Life

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...