Disparities in Spinal Muscular Atrophy-Related Mortality in the United States, 2018–2023 [PDF]
NeuroSciBackground: Prior SMA mortality studies have shown excess mortality in people with SMA, but the literature lacks data on disparities in SMA-related mortality.
Ali Al-Salahat, Rohan Sharma
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Research progress of spinal muscular atrophy treatment in children
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Spinal muscular atrophy (SMA) is the most common fatal neurogenetic disease in infant period. Clinical manifestations of SMA include symmetrical and progressive weakness and atrophy of proximal limbs.
Miao ZHAO +3 more
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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy
Annals of Clinical and Translational Neurology, 2020 Background Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis.
Ana T. Marcos +8 more
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Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months [PDF]
Annals of Child NeurologyPurpose This study investigated the impact of nusinersen on health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset spinal muscular atrophy (SMA), addressing a growing interest in disease ...
Yun Jeong Lee +5 more
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Segmental Spinal Muscular Atrophy Localised to the Lower Limbs : First case from Oman
Sultan Qaboos University Medical Journal, 2017 Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord.
Roshan Koul +4 more
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Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study
Annals of Clinical and Translational Neurology, 2019 Background Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical
Maryam Sedghi +9 more
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Journal of Pediatric and Neonatal Individualized Medicine, 2016 Selected Lectures of the 12th International Workshop on Neonatology • 10 P PEDIATRICS: NOTES FOR THE FUTURE • Cagliari (Italy) • Cagliari (Italy) • October 19th-22nd, 2016 LECT 1. NEONATAL CONGENITAL HEART DISEASE: WHAT'S NEW? • S.
--- Various Authors
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Spinal muscular atrophy in childhood: Two clues to clinical diagnosis [PDF]
Archives of Disease in Childhood, 1973 A coarse tremor was noted in 13 children suffering from the childhood form of spinal muscular atrophy. Tremor has not been seen in any other condition producing proximal muscle weakness in childhood, and its presence should therefore suggest the diagnosis of spinal muscular atrophy. In addition, the feet of patients with spinal muscular atrophy tended
A, Moosa, V, Dubowitz
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Perioperative rehabilitation management for a child with spinal muscular atrophy: one case report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 LI Wen‑zhu +7 more
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Segregation analysis of chronic childhood spinal muscular atrophy. [PDF]
Journal of Medical Genetics, 1978 A formal segregation analysis for the disease 'chronic childhood spinal muscular atrophy' is presented. This disease is also known as 'Kugelberg-Welander disease', 'arrested Werdnig-Hoffmann disease', and 'chronic proximal or generalised spinal muscular atrophy'. There were 124 index cases occurring in 115 families.
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