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WEBSep 13, 2024 · The use of ultrasound to guide the administration of Spinraza (nusinersen) injection into the spinal canals of adults with spinal muscle atrophy (SMA) significantly reduced the number of needle redirections compared with a standard, landmark-based approach, according to a clinical trial. Among patients with …
Spinal Muscular Atrophy: Nutrition and Supplementation
WEBThe nutritional management of patients with progressive neuromuscular diseases like Spinal Muscular Atrophy (SMA) is complex and is achieved optimally with an individualized approach from a multidisciplinary care team. 1,2 Patients with SMA need nutritional monitoring at least annually with assessment of caloric intake and standard ...
Spinal Muscular Atrophy: Pain – HCP SMA News Today
WEBSpinal Muscular Atrophy (SMA) is a congenital motor neuron degenerative disorder resulting in weakness, low tone, and when presenting in early life, death. 1 Though some investigators have seen evidence of sensory nerve death, 2 SMA is typically considered to be a motor disease without a significant a sensory neuropathy component because the ...
FDA Approves Evrysdi, First Oral Treatment for All SMA Types
WEBAug 7, 2020 · The U.S. Food and Drug Administration (FDA) has approved Evrysdi — formerly known as risdiplam — as the first oral and at-home treatment for adults, children, and infants 2 months of age and older with all types of spinal muscular atrophy (SMA). With this action, Evrysdi — marketed by Genentech, a subsidiary of Roche — is now the third ...
Spinal muscular atrophy diagnosis and testing - SMA News Today
WEBJan 20, 2023 · Genetic tests for SMA. The gold standard for a spinal muscular atrophy diagnosis is genetic testing to identify whether a potential patient has the disease-causing mutations. A number of technologies may be used for this type of testing, ranging from techniques that look for common mutations in specific genes to …
Nutritional Support for SMA Patients – HCP SMA News Today
WEBChildren with spinal muscular atrophy (SMA) often experience substantial gastrointestinal and nutritional issues. 1 Impaired feeding correlates with failure to thrive and various comorbidities. 2 Moreover, recent research has suggested that people with SMA have higher rates of metabolic abnormalities including metabolic acidosis, hyperlipidemia ...
Spinal Muscular Atrophy: Cardiac Disease – HCP SMA News Today
WEBSpinal Muscular Atrophy (SMA) is an inherited neurodegenerative disease, 1 but it is increasingly clear that the pathology of SMA extends beyond ventral horn spinal cord neurons and includes the heart among other organs. 2 In patients with SMA, tissue levels of SMN1 protein are reduced in heart tissues, 3 and numerous mouse models of SMA exhibit cardiac developmental abnormalities which ...
Orthopedic Surgery – Scoliosis in SMA – HCP SMA News Today
WEBChildren with spinal muscular atrophy (SMA) face several orthopedic challenges including scoliosis, joint flexion contractures, subluxations and dislocations of the hip, and bone fractures. 1,2 By far the most common orthopedic problem in SMA patients is a progressive, neuromuscular scoliosis. 2 In fact, the rate of scoliosis in non-ambulatory ...
Spinal Muscular Atrophy Type 1 Subtypes – HCP SMA News Today
WEBSpinal Muscular Atrophy (SMA) type 1, also known as Werdnig-Hoffmann disease, is the most common diagnosed form of SMA, accounting for approximately half of all patients with SMA. 1 SMA type 1 is a degenerative neuromuscular condition and without life-prolonging interventions such as mechanical ventilation, this form of SMA is nearly universally fatal before age 2 years. 2
Spinal Muscular Atrophy (SMA) Types – SMA News Today
WEBFeb 2, 2023 · Spinal muscular atrophy, or SMA, is a genetic disorder that is divided into five main types based on the age at which symptoms first appear. These forms of SMA range from type 0, which occurs before birth, to type 4, in which symptoms do not start until adulthood. The more common types — 1, 2, and 3 — typically manifest in infancy, or in ...