Results 1 to 10 of about 77,106 (331)
Pediatric Neurology Briefs, 1990 Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
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Advances and limitations for the treatment of spinal muscular atrophy
BMC Pediatrics, 2022 Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day +6 more
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Orphanet Journal of Rare Diseases, 2011 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1
D'Amico Adele +3 more
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Spinal muscular atrophy and ependymoma
Saudi Journal of Medicine and Medical Sciences, 2017 Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr +3 more
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Anesthetic management of a patient with spinal muscular atrophy type II for scoliosis surgery: a case report [PDF]
BMC AnesthesiologyBackground Spinal Muscular Atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by degeneration of motor neurons in the spinal cord, resulting in progressive limb muscle weakness, atrophy, and severe scoliosis.
Zhuangyuan Chen +5 more
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Neurotherapeutics, 2008 Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no ...
Petra Kaufmann, Maryam Oskoui
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Nusinersen for spinal muscular atrophy [PDF]
Therapeutic Advances in Neurological Disorders, 2018 Claudia D. Wurster, Albert C. Ludolph
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Neural Regeneration Research, 2021 Infantile-onset spinal muscular atrophy is the quintessential example of a disorder characterized by a predominantly neurodegenerative phenotype that nevertheless stems from perturbations in a housekeeping protein.
Kishore Gollapalli +2 more
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Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
International Journal of Molecular Sciences, 2023 Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891.
H. Nishio +5 more
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Oral risdiplam for specific therapy in adult patients with 5q spinal muscular atrophy in the Moscow region [PDF]
Анналы клинической и экспериментальной неврологии, 2023 5q spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease characterized by gradual loss of motor neurons with progressive muscle weakness and atrophy.
Ekaterina S. Novikova
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