Spinal Muscular Atrophy Overview: Difference between revisions
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(New page: ==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...) |
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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 raises hope for a cure in future. | |||
Latest revision as of 23:27, 18 June 2011
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 raises hope for a cure in future.