by Nisha Cooch, PhD | 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,...
by Nisha Cooch, PhD | Jan 28, 2019 | Genetic Counselor Resource Page One, Genetic Counselor Resource Pages, Neurologists Resource Page One, Neurologists Resource Pages, Nursing Resource Page One, Nursing Resource Pages, Nutritionist Resource Page One, Nutritionist Resource Pages, Orthopedics Resource Page One, Orthopedics Resource Pages, Pediatricians Resource Page One, Pediatricians Resources, Physical Therapists Resource Page One, Physical Therapists Resource Pages, Pulmonologist Resource Page One, Pulmonologist Resource Pages, Radiology Resource Page One, Radiology Resources, Social Worker Resource Page One, Social Worker Resource Pages, Urologist Resource Page One, Urologist Resources
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...
by Michael Nace | Jan 7, 2019 | Genetic Counselor Resource Page One, Genetic Counselor Resource Pages, Neurologists Resource Page One, Neurologists Resource Pages
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...
by Michael Nace | Dec 20, 2018 | Genetic Counselor Resource Page Three, Genetic Counselor Resource Pages, Neurologists Resource Page Three, Neurologists Resource Pages
Though rare, spinal muscular atrophy (SMA) does sometimes co-occur with other rare conditions. Both SMA type 2 and eosinophilic oesophagitis (EoE) occur in approximately 0.16-4 per 10,000 people,1–4 but the conditions have also been simultaneously observed in...
by Michael Nace | 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,...
by Michael Nace | Dec 19, 2018 | Genetic Counselor Resource Page One, Genetic Counselor Resource Pages, Neurologists Resource Page One, Neurologists Resource Pages
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...
