Spinal Muscular Atrophy
Structure that edits messenger RNA transcripts defective in two different forms of motor neuron diseases
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are degenerative motor neuron diseases in which the key mutated genes are involved in RNA metabolism. This similarity suggests that a ...
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Apr 26, 2013 |
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Study offers new approach for spinal muscular atrophy
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Apr 09, 2013 |
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Researcher advancing motor neuron studies
A University of Connecticut researcher is advancing the understanding of the devastating inherited condition known as spinal muscular atrophy.
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New research sheds light on childhood neuromuscular disease
A study by scientists at the Motor Neuron Center at Columbia University Medical Center suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from problems ...
Medical research
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New MRI technique allows detailed imaging of complex muscle structures and muscle damage
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Novel mechanisms underlying major childhood neuromuscular disease identified
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Shared pathway links Lou Gehrig's disease with spinal muscular atrophy
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Low oxygen levels may decrease life-saving protein in spinal muscular atrophy
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Team introduces new method to closely model diseases caused by splicing defects
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Spinal muscular atrophy (SMA) is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting in death of neuronal cells in the anterior horn of spinal cord and subsequent system-wide muscle wasting (atrophy).
Spinal muscular atrophy manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms. Spinal muscular atrophy is the most common genetic cause of infant death.
Sometimes, the term spinal muscular atrophy is used to encompass other hereditary disorders that involve death of motor neurons in the anterior horn of spinal cord - see spinal muscular atrophies.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
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