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 BNS Staff | 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 BNS Staff | Nov 28, 2018 | Neurologists Resource Page Three, Neurologists Resource Pages, Nursing Resource Page Three, Nursing Resource Pages, Pediatricians Resource Page Two, Pediatricians Resources, Radiology Resource Page Three, Radiology Resources
In the pivotal clinical trials that support FDA approval, nusinersen was administered via intrathecal injection. However, this approach requires that patients receive multiple intrathecal injections separated in time by weeks. During each infusion, the clinician must...
by BNS Staff | Sep 17, 2018 | Neurologists Resource Page Three, Neurologists Resource Pages, Radiology Resource Page Three, Radiology Resources
Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disease associated with typically proximal muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord.1 Prior to genetic testing as the gold standard diagnostic method for...
by BNS Staff | Aug 27, 2018 | Neurologists Resource Page Three, Neurologists Resource Pages, Pediatricians Resources
Spinal Muscular Atrophy (SMA) type 3, also known as Kugelberg Welander disease1, is diagnosed in fewer than 20% of patients with childhood-onset SMA.2 Patients with SMA type 3 typically will experience an insidious onset of leg weakness after they achieve independent...
by BNS Staff | Aug 15, 2018 | Genetic Counselor Resource Page Three, Genetic Counselor Resource Pages, Just Published, Neurologists Resource Page Three, Neurologists Resource Pages, Nursing Resource Pages, Nutritionist Resource Page Two, Nutritionist Resource Pages, Orthopedics Resource Pages, Pediatricians Resources, Physical Therapists Resource Pages, Pulmonologist Resource Pages, Radiology Resources, Social Worker Resource Pages
Nusinersen (Spinraza) is the first FDA-approved, disease-modifying therapy for the treatment of spinal muscular atrophy (SMA). Nusinersen is an antisense oligonucleotide that binds to a sequence downstream of exon 7 in the SMN2 gene. The oligonucleotide blocks the...