Spinal Muscular Atrophy
When nerve meets muscle, biglycan seals the deal
A protein that has shown early promise in preventing the loss of muscle function in mouse models of Duchenne muscular dystrophy, has been found in a new study to be a key player in the process of joining nerves ...
Neuroscience
Feb 14, 2012 |
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Antisense oligonucleotides make sense in myotonic dystrophy
Antisense oligonucleotides – short segments of genetic material designed to target specific areas of a gene or chromosome – that activated an enzyme to "chew up" toxic RNA (ribonucleic acid) could point the way ...
Genetics
Feb 27, 2012 |
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Devastating disease provides insight into development and death of motor neurons
Researchers at UCLA have been searching for the cause of a rare disease that virtually no one has ever heard: PCH1, or pontocerebellar hypoplasia type 1, which attacks the brain and the spine.
Genetics
Apr 30, 2012 |
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Scientists find possible cause of movement defects in spinal muscular atrophy
(Medical Xpress) -- An abnormally low level of a protein in certain nerve cells is linked to movement problems that characterize the deadly childhood disorder spinal muscular atrophy, new research in animals suggests.
Neuroscience
Apr 11, 2012 |
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Scientists measure communication between stem cell-derived motor neurons and muscle cells
In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure the communication between stem ...
Neuroscience
May 05, 2012 |
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Long-term correction of severe spinal muscular atrophy by antisense therapy
A new study from Cold Spring Harbor Laboratory (CSHL) reports surprising results that suggest that the devastating neuromuscular disease, spinal muscular atrophy (SMA), might not exclusively affect the motor neurons in the ...
Medical research
Oct 05, 2011 |
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A step forward toward muscular dystrophy treatment: 'Antisense' compound rids muscle cells of toxic RNA
Scientists have reversed symptoms of myotonic muscular dystrophy in mice by eliminating a buildup of toxic RNA in muscle cells. The work, carried out by scientists at the University of Rochester Medical Center, Isis Pharmaceuticals ...
Medical research
Aug 01, 2012 |
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Potential new approach to regenerating skeletal muscle tissue
An innovative strategy for regenerating skeletal muscle tissue using cells derived from the amniotic fluid is outlined in new research published by scientists at the UCL Institute of Child Health.
Medical research
Jun 01, 2012 |
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New class of stem cell-like cells discovered offers possibility for spinal cord repair
The Allen Institute for Brain Science announced today the discovery of a new class of cells in the spinal cord that act like neural stem cells, offering a fresh avenue in the search for therapies to treat spinal cord injury ...
Medical research
Sep 15, 2011 |
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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 ...
Medical research
Apr 26, 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.
Neuroscience
Jan 29, 2013 |
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Low oxygen levels may decrease life-saving protein in spinal muscular atrophy
Investigators at Nationwide Children's Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live ...
Genetics
Aug 21, 2012 |
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High mortality, morbidity with early-onset scoliosis surgery
(HealthDay)—Surgery for patients with early-onset scoliosis is associated with an 18 percent mortality rate and an 84 percent complication rate, according to research published in the Feb. 15 issue of Spine.
Surgery
Mar 25, 2013 |
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Novel mechanisms underlying major childhood neuromuscular disease identified
A study by scientists from the Motor Neuron Center at Columbia University Medical Center (CUMC) suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results ...
Medical research
Oct 11, 2012 |
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Study offers new approach for spinal muscular atrophy
Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different animal models, researchers ...
Neuroscience
Apr 09, 2013 |
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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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