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 | Sep 21, 2018 | Genetic Counselor Resource Page Three, Genetic Counselor Resource Pages
Spinal Muscular Atrophy (SMA) is an incurable, inherited neuromuscular disease typified by progressive weakness and, in the most severe forms, death due to respiratory failure.1 SMA is the second most common congenital disease with an estimated worldwide incidence of...
by Michael Nace | Sep 10, 2018 | Genetic Counselor Resource Page Three, Genetic Counselor Resource Pages
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 15, 2018 | Genetic Counselor Resource Page Three, Genetic Counselor Resource Pages, Just Published, Neurologists Resource Pages, Pediatricians Resources
Spinal Muscular Atrophy (SMA) that presents after 6 months of age will include the second most common presentation of SMA, type 2 SMA, and the least commonly observed form of childhood onset SMA, type 3.1 The typical presenting symptoms of types 2 and 3 SMA,...
by Michael Nace | 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...
