Results 1 to 10 of about 45,438 (256)
Neurologic Clinics, 2015 Spinal muscular atrophy is an autosomal-recessive disorder characterized by degeneration of motor neurons in the spinal cord and caused by mutations in the survival motor neuron 1 gene, SMN1. The severity of SMA is variable. The SMN2 gene produces a fraction of the SMN messenger RNA (mRNA) transcript produced by the SMN1 gene.
Stephen J Kolb
exaly +5 more sources
Lancet, The, 2008 Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation.
Mitchell R Lunn, Ching H Wang
exaly +5 more sources
Spinal Muscular Atrophy and Ependymoma
Saudi Journal of Medicine & 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. We report the case of a 33-year-old female with SMA type IV (SMA4) who presented with symptoms of spinal cord lesion that was initially ...
Aishah Albakr +3 more
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Biomarkers in spinal muscular atrophy. [PDF]
Front NeurolSpinal muscular atrophy is a hereditary disorder leading to severe neuromuscular impairment. With the introduction of disease-modifying therapies in recent years, the role of biomarkers has expanded from aiding diagnosis to monitoring treatment responses, prognostic assessment, and the development of individualized treatment strategies.
Yan L, Zhang J, Zheng J, Hao H.
europepmc +4 more sources
Orphanet Journal of Rare Diseases, 2011 Abstract 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 in 10,000 live births and carrier frequency of 1/40-1/60.
D'Amico, Adele +3 more
openaire +6 more sources
Seminars in Neurology, 2001 The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding
Talbot, K, Davies, K
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Spinal and Bulbar Muscular Atrophy [PDF]
Neurologic Clinics, 2015 Spinal and bulbar muscular atrophy, or Kennedy disease, is a slowly progressive X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Affected males typically develop weakness in their mid-40s as well as evidence of androgen insensitivity with reduced fertility and gynecomastia.
Christopher, Grunseich +1 more
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Utility of Far-Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy. [PDF]
Muscle NerveCalma AD +9 more
europepmc +1 more source
Nusinersen for spinal muscular atrophy [PDF]
Therapeutic Advances in Neurological Disorders, 2018 Claudia D. Wurster, Albert C. Ludolph
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Nusinersen: the antisense oligonucleotide at the forefront of spinal muscular atrophy treatment. [PDF]
RNA BiolSingh NN, Ottesen EW, Singh RN.
europepmc +1 more source