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,...
How to Administer Nusinersen in Adolescents 

How to Administer Nusinersen in Adolescents 

Nusinersen is the first treatment available for children with spinal muscular atrophy (SMA). Before its approval in 2016, the U.S. Food and Drug Administration had not approved the use of any drug for SMA treatment.1 While the introduction of this new drug marks...
What is Meaningful Change in Spinal Muscular Atrophy?

What is Meaningful Change in Spinal Muscular Atrophy?

A tool that is commonly used to evaluate motor function in spinal muscular atrophy (SMA) patients is the Hammersmith Functional Motor Scale (HFMSE).1 Given the extensive use of this tool, particularly for clinical trial research that aims to identify and develop...
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,...
Spinal Muscular Atrophy: Magnetic Resonance Imaging

Spinal Muscular Atrophy: Magnetic Resonance Imaging

Spinal Muscular Atrophy (SMA) is a progressive neuromuscular accompanied by significant typically proximal muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord.1  Diagnosis of SMA does not require magnetic resonance imaging...