Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

Motor Unit Number Index as a Biomarker for Spinal Muscular Atrophy

by | Jan 28, 2019 | Genetic Counselor Resource Page Two, Genetic Counselor Resource Pages, Neurologists Resource Page Two, Neurologists Resource Pages, Pulmonologist Resource Page Two, Pulmonologist Resource Pages

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 

by | Jan 15, 2019 | Neurologists Resource Page Two, Neurologists Resource Pages, Nursing Resource Page Two, Nursing Resource Pages, Radiology Resource Page One, Radiology Resources

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?

by | Jan 7, 2019 | Neurologists Resource Page Two, Neurologists Resource Pages, Nursing Resource Page One, Nursing Resource Pages, Orthopedics Resource Page One, Orthopedics Resource Pages, Pediatricians Resource Page One, Pediatricians Resources, Pulmonologist Resource Page One, Pulmonologist Resource Pages, Social Worker Resource Page One, Social Worker Resource Pages

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

by | Dec 20, 2018 | Genetic Counselor Resource Page One, Genetic Counselor Resource Pages, Neurologists Resource Page Two, Neurologists Resource Pages

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

by | Sep 17, 2018 | Neurologists Resource Page Two, Neurologists Resource Pages, Orthopedics Resource Pages, Physical Therapists Resource Pages, Pulmonologist Resource Pages, Radiology Resource Page Two, Radiology Resources

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...