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 Michael Nace | Oct 5, 2018 | Genetic Counselor Resource Page Two, Genetic Counselor Resource Pages, Nutritionist Resource Page Two, Nutritionist Resource Pages, Pediatricians Resource Page Two, Pediatricians Resources, Social Worker Resource Page Two, Social Worker Resource Pages
Psychological support for patients and families is a critical but often neglected component of care in Spinal Muscular Atrophy (SMA).1 Families will have psychological support needs that differ depending on where they are in their respective healthcare odysseys, from...
by Michael Nace | Sep 21, 2018 | Genetic Counselor Resource Page Two, Genetic Counselor Resource Pages
A biomarker is defined as “any substance, structure, or process that can be measured in the body or its products and influence or predict the incidence of outcome or disease.”1 Biomarkers can be used as clinical readouts to aid decision making (i.e., x-ray radiography...
by Michael Nace | Sep 10, 2018 | Genetic Counselor Resource Page Two, Genetic Counselor Resource Pages, Nutritionist Resource Page Two, Nutritionist Resource Pages, Orthopedics Resource Page Two, Orthopedics Resource Pages, Pediatricians Resources, Physical Therapists Resource Page Two, Physical Therapists Resource Pages
Spinal Muscular Atrophy (SMA) is a congenital, progressive neuromuscular disease with the most common age of onset in early childhood.1 Childhood is a period of significant growth and development. While patients with some forms of SMA (type 0 and 1) will experience...
by Michael Nace | Aug 15, 2018 | Genetic Counselor Resource Page Two, Genetic Counselor Resource Pages, Just Published, Neurologists Resource Pages
Epidemiology With an estimated incidence of approximately 1 in 10,00-11,00 live births, Spinal Muscular Atrophy (SMA) is the second most common autosomal recessive cause of death in children in the United States; incidence in European countries may be higher.1-3 The...
by Michael Nace | Aug 15, 2018 | Genetic Counselor Resource Page Two, Genetic Counselor Resource Pages, Just Published, Neurologists Resource Pages
Spinal Muscular Atrophy (SMA) that presents in adulthood, so-called type 4 SMA, has a more restricted differential diagnosis than types 0-3. Considerations for the adult with new mild weakness are as follows: Autoimmune Autoimmune diseases can present with new onset...
