Short reportsGenetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy
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Classification of spinal muscular atrophies
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The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy
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Cited by (109)
Spinal muscular atrophy
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 2An Introduction to the Natural History, Genetic Mapping, and Clinical Spectrum of Spinal Muscular Atrophy
2017, Molecular and Cellular Therapies for Motor Neuron DiseasesTelomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations
2016, Pediatric NeurologyCitation Excerpt :It is characterized by the degeneration of lower motor neurons leading to muscle weakness and progressive loss of movement, and can be classified into three subtypes based on the age of onset and clinical severity: type 1 (severe, unable to sit without aid), type 2 (intermediate, able to sit alone but unable to stand or walk without aid), and type 3 (mild, able to stand and walk without aid).1 Recently, two other subtypes of the disease have been proposed: SMA type 0 presenting the severest phenotype with prenatal onset (congenital SMA)2-4 and SMA type 4 presenting the mildest phenotype manifesting after age 20 years (adult SMA).5,6 SMA type 0 is the severest form of SMA type 1, and SMA type 4 is the mildest form of SMA type 3.
Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis
2015, Journal of the Neurological SciencesCitation Excerpt :Another strength of this study is that the time interval between the onset of weakness and EMG session in our ALS patients was shorter (mean 8.3 months) than in many previous studies [7,18,27]. Several reports have described EMG-recorded spontaneous activity in ALS, but there is less detailed information regarding EMG findings in other motor neuron disorders [3,8,10,14,17,22]. Fibrillations in ALS patients are known to occur more often in weak than non-weak and in distal more frequently than in proximal muscles [15].
Spinal Muscular Atrophy
2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth EditionNovel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients
2014, Neuromuscular DisordersCitation Excerpt :In relation to age of onset and the achievement of motor milestones, SMA has been classified into three main clinical forms (SMA1–3) [3]. Apart from these three basic clinical types, two other forms have been described in the literature: an inborn form (SMA0) in which symptoms are already present in the fetus and an adult proximal form (SMA4), with age of onset above 20–30 years [4–7]. Two genes: SMN1 (survival of motor neuron 1) and SMN2 (survival of motor neuron 2) are important in the pathogenesis of SMA [8].