Spinal muscular atrophy overview: Difference between revisions
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{{Spinal Muscular Atrophy}} | {{Spinal Muscular Atrophy}} | ||
''' | '''Editors-in-Chief:''' [[C. Michael Gibson, M.S., M.D.]]; [[Priyamvada Singh]], [[MBBS]] | ||
==Overview== | ==Overview== | ||
'''Spinal muscular atrophy''' is the commonest genetic cause of infant mortality. It is an [[autosomal recessive]] [[neuromuscular disorder]] caused by loss of survival motor neuron gene (SMN1). It is primarily a pediatrics disorder resulting from degeneration of [[anterior horn cells]] [[(lower motor neurons)]] in [[spinal cord]] and [[brain stem nuclei]]. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and | '''Spinal muscular atrophy''' is the commonest genetic cause of infant mortality. It is an [[autosomal recessive]] (95-98%) [[neuromuscular disorder]], caused by loss of survival motor neuron gene (SMN1 gene). It is primarily a pediatrics disorder resulting from degeneration of [[anterior horn cells]] [[(lower motor neurons)]] in [[spinal cord]] and [[brain stem nuclei]]. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raised hope for a cure in future. | ||
==References== | ==References== | ||
Latest revision as of 23:05, 9 July 2017
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Spinal Muscular Atrophy Microchapters |
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Spinal muscular atrophy overview Resources |
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Ongoing Trials on Spinal muscular atrophy overview at Clinical Trials.gov |
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US National Guidelines Clearinghouse on Spinal muscular atrophy overview |
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Directions to Hospitals Treating Spinal muscular atrophy overview |
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Risk calculators and risk factors for Spinal muscular atrophy overview |
Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS
Overview
Spinal muscular atrophy is the commonest genetic cause of infant mortality. It is an autosomal recessive (95-98%) neuromuscular disorder, caused by loss of survival motor neuron gene (SMN1 gene). It is primarily a pediatrics disorder resulting from degeneration of anterior horn cells (lower motor neurons) in spinal cord and brain stem nuclei. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raised hope for a cure in future.