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This new drug show hope for infants with rare, fatal muscle disease
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New York: A new study by US researchers have found a new novel drug that shows hope for infants suffering with rare, fatal muscle disease.This new experimental drug may have the potential to improve the quality of life for infants suffering from a rare, lethal neuromuscular disorder.Spinal muscular atrophy is a genetic disease that affects around one in every 11,000 births.It affects the nerve cells in the spinal cord that connect to the muscles, causing them to waste away resulting in progressive muscle weakness and difficulty in breathing and eating.
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Novel drug shows hope for infants with muscle disease
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New York, Dec 7 (IANS) A new experimental drug may have the potential to improve the quality of life for infants suffering from a rare, lethal neuromuscular disorder, US researchers have found.Spinal muscular atrophy is a genetic disease that affects around one in every 11,000 births.It affects the nerve cells in the spinal cord that connect to the muscles, causing them to waste away resulting in progressive muscle weakness and difficulty in breathing and eating.Infantile-onset, which is the most severe form of the disease, occurs from a defect in the gene called SMN2, responsible for producing survival motor neuron (SMN) -- a protein critical for normal cell function.It affects babies under the age of six months.Less than a quarter of those diagnosed with the disease will live up to two years without major feeding and breathing support.The study -- a phase 2 trial involving 20 babies with infantile-onset SMA -- showed the treatment with the drug nusinersen could increase the production of SMN protein by modifying a closely-related gene to compensate for the genetic defect.Apart from being safe for use in babies as young as five-week-old, nusinersen was also found to halt progression of the disease and in many cases improve motor function.In addition, nusinersen sometimes enabled children to gain skills such as sitting, rolling over, and standing -- usually not seen in SMA Type 1 -- as well as improved survival without depending upon the continuous use of a ventilator, the researchers explained."With nusinersen, these infants are not only living longer, but living better," said lead author Richard S. Finkel from Nemours Children's Hospital in Florida, US."SMA is no longer a death sentence for infants.
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Novel drug rescues babies with fatal neurodegenerative disease
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There have been few happy endings when it comes to spinal muscular atrophy (SMA), the most common genetic cause of death in childhood.The disease inexorably destroys the motor neurons of the spinal cord and brainstem that control movement, including swallowing and breathing.In its most severe form, SMA kills those afflicted at about age 2, most commonly by suffocating them.There are no Food and addiction Administration (FDA)–approved drugs for the disease.
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New drug might halt the progress of neurodegenerative disease
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Spinal muscular atrophy type 1 is a hereditary disease that causes severe muscle weakness in infants and children.Until now, there was no known cure or disease-modifying treatment for the condition.Clinical trials of a new drug called nusinersen, however, show significant promise.A new drug has shown positive effects in infants diagnosed with SMA-1.
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