by Nisha Cooch, PhD | Jan 28, 2019 | Neurologists Resource Page Three, Pediatricians Resource Page Three, Pediatricians Resources, Pulmonologist Resource Page Three, Pulmonologist Resource Pages
The vast majority of spinal muscular atrophy (SMA) cases are caused by a mutation in the survival motor neuron 1 (SMN1) gene, which leads to abnormally low levels of SMN1 gene products.1 Many attempts at therapy have focused on how to increase SMN levels in SMA...
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 | 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...
by Michael Nace | Dec 20, 2018 | Nursing Resource Page Two, Nursing Resource Pages, Pediatricians Resource Page Two, Pediatricians Resources, Pulmonologist Resource Page Two, Pulmonologist Resource Pages
Intubation in spinal muscular atrophy (SMA) can be difficult or impossible,1 but the need for endotracheal intubation in SMA patients is increasing.2 In SMA type 1, respiratory failure can require frequent intubation in children ages three and below.3 As life...
by Michael Nace | Dec 20, 2018 | Nursing Resource Page One, Nursing Resource Pages, Pulmonologist Resource Page One, Pulmonologist Resource Pages
Surgery is frequently needed for both diagnostic and treatment purposes in patients with neuromuscular disorders like spinal muscular atrophy (SMA).1 Optimizing perioperative care in these patients requires a multidisciplinary team that can collaborate to anticipate...
