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 Michael Nace | Dec 19, 2018 | Nursing Resource Page One, Nursing Resource Pages, Pediatricians Resource Page Two, Pediatricians Resources, Physical Therapists Resource Page One, Physical Therapists Resource Pages, Pulmonologist Resource Page Three, Pulmonologist Resource Pages
Spinal muscular atrophy (SMA) is associated with serious respiratory system complications,1 and pulmonary disease is the primary cause of morbidity and mortality in both SMA type 1 and SMA type 2 patients.2 Given the frequency and extent of oxygenation and breathing...
by Michael Nace | Oct 23, 2018 | Pulmonologist Resource Page Three, Pulmonologist Resource Pages
Spinal Muscular Atrophy (SMA) is a progressive congenital neuromuscular disease that causes weakness that can involve respiratory muscles.1,2 SMA is associated with a loss of respiratory function that correlates with the severity of the disease phenotype.2 Dyspnea is...
by Michael Nace | Aug 15, 2018 | Genetic Counselor Resource Pages, Just Published, Neurologists Resource Pages, Nursing Resource Pages, Pulmonologist Resource Page Three, Pulmonologist Resource Pages, Social Worker Resource Page One, Social Worker Resource Pages, Urologist Resource Page Two, Urologist Resources
The disease course and prognosis of spinal muscular atrophy (SMA) depends heavily on the clinical classification in a particular patient. For example, the prognosis of children with SMA type 0 is very poor while the prognosis in SMA type 4 patients is relatively good....
by Michael Nace | Aug 15, 2018 | Neurologists Resource Page One, Neurologists Resource Pages, Pediatricians Resource Page One, Pediatricians Resources, Pulmonologist Resource Page Three, Pulmonologist Resource Pages, Social Worker Resource Page Three, Social Worker Resource Pages
Until the approval of nusinersen (Spinraza), treatment for spinal muscular atrophy was largely supportive. While patients with SMA enjoy benefits from respiratory therapy, physical therapy, nutrition support, etc., these therapies are aimed at maximizing residual...
