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 | Nov 27, 2018 | Pediatricians Resource Page Three, Pediatricians Resources, Physical Therapists Resource Page Two, Physical Therapists Resource Pages
According to the American Speech-Language-Hearing Association, speech therapists work to improve human communication, swallowing difficulties, and disorders of upper aerodigestive functioning.1 Given that the same muscles are used for speech, swallowing, and clearing...
by Michael Nace | Oct 30, 2018 | Nursing Resource Page Three, Nursing Resource Pages, Orthopedics Resource Page Three, Orthopedics Resource Pages, Pediatricians Resource Page Three, Pediatricians Resources, Physical Therapists Resource Page Three, Physical Therapists Resource Pages
Poor bone health is a consequence of Spinal Muscular Atrophy (SMA). Bone mineral density is significantly reduced1,2 in up to 50% of patients with SMA.3 Immobility and muscle weakness in SMA are significant risk factors for low bone mineralization, but bone density is...
by Michael Nace | Oct 8, 2018 | Pediatricians Resource Page Three, Pediatricians Resources, Urologist Resource Page Two, Urologist Resources
In a survey of patients with Spinal Muscular Atrophy (SMA), more than half of caregivers reported gastroesophageal reflux disease (GERD), and gastroesophageal motility issues are well-documented in patients with progressive neuromuscular disease.1,2 Esophageal...
by Michael Nace | Sep 10, 2018 | Pediatricians Resource Page Three, Pediatricians Resources
Spinal Muscular Atrophy (SMA) is a congenital motor neuron degenerative disorder typically resulting from loss of the SMN1 gene on chromosome 5q13.1 While homozygous loss of SMN1 has been reported to account for anywhere from 95%2 to approximately 50%3 of cases with...
by Michael Nace | Aug 27, 2018 | Nursing Resource Page One, Nursing Resource Pages, Nutritionist Resource Page One, Nutritionist Resource Pages, Pediatricians Resource Page Three, Pediatricians Resources, Physical Therapists Resource Page One, Physical Therapists Resource Pages
Children with spinal muscular atrophy (SMA) who are able to sit (i.e., “sitters”) often encounter substantial difficulties with chewing, choking, coughing, and food aspiration. While these issues are less severe in sitters than they are in non-sitters,...
