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Spinal and bulbar muscular atrophy
2018Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor.
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Spinal muscular atrophy in childhood
Seminars in Pediatric Neurology, 1996Diagnosis and classification of spinal muscular atrophy (SMA) in childhood are based on clinical, electrophysiological, and histological studies. The concept of maturational arrest of motoneurons and their targets (muscle cells in SMA type I) is documented by ultrastructural and immunohistochemical data.
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Spinal Muscular Atrophy Diagnostics
Journal of Child Neurology, 2007Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron gene ( SMN), which exists in 2 nearly identical copies ( SMN1 and SMN2). Exon 7 of SMN1 is homozygously absent in about 95% of spinal muscular atrophy patients, whereas the loss of SMN2 does not cause spinal muscular atrophy ...
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New treatments in spinal muscular atrophy: an overview of currently available data
Expert Opinion on Pharmacotherapy, 2020Laurent Servais, Sithara Ramdas
exaly
Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
International Journal of General Medicine, 2022Perry B Shieh
exaly
Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review
Pediatric Neurology, 2015Chia-Wei Lin
exaly