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WEBSep 13, 2024 · SMA treatment Zolgensma seen to benefit patients in real world. Treatment with Zolgensma (onasemnogene abeparvovec-xioi) improves motor function in children with spinal muscular atrophy (SMA) who carry at least four copies of the so-called backup SMN2 gene, according to real-world data from the RESTORE patient registry.
Spinal Muscular Atrophy: Scoliosis – HCP SMA News Today
WEBScoliosis is an early orthopedic complication of Spinal Muscular Atrophy (SMA). 1 The estimated incidence of scoliosis in SMA types 1 and 2 ranges from 60-90% 2 and is approximately 50% in SMA type 3. 3 The etiology of scoliosis in SMA is weakness throughout the muscles in the thoracic compartment leading to a progressive spinal column deformity with pelvic obliquity. 1,2,4 Patients with SMA ...
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WEBTreatment with Spinraza (nusinersen) generally stabilized or improved motor function for older patients with spinal muscular atrophy (SMA), according to a review and meta-analysis of previously published observational studies. The new analysis, which spanned a treatment period of up to two years, involved adults and adolescents with….
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: Electromyography - SMA News Today
WEBSpinal 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 SMA, electromyography (EMG) was used widely to diagnose SMA. 2,3 EMG still has a role in the diagnostic confirmation of motor ...
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 …
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 anthropomorphic measurements. 3 In younger children, a ...
Spinal Muscular Atrophy: Chewing and Swallowing Problems
WEBIn a survey including patients with SMA, approximately one third of patients reported at least one feeding or swallowing issue. 4 Follow-up surveys refined and elaborated on this estimate. In a survey of patients with SMA type 2, 30% of these patients reported difficulty in opening their mouths, 28% experienced chewing difficulties, and 25% had ...
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: 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 ...
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