Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of death among infants and toddlers. Characterized by selective loss of nerve cells in the spinal cord, the disease leads to increasing muscular weakness and atrophy. Over time, patients afflicted by SMA continue to lose muscle control and strength, leading to progressive inability to walk, stand, sit up and breathe. It is estimated that approximately 1 in 6,000 to 1 in 10,000 infants are born annually worldwide with SMA.
A puzzling question has lurked behind SMA, the leading genetic cause of death in infants. The disorder leads to reduced levels of the SMN protein, which is thought to be involved in processing RNA, something that occurs in every cell in the body.
In a study of mice and monkeys, National Institutes of Health funded researchers showed that they could prevent and reverse some of the brain injury caused by the toxic form of a protein called tau.
Under ordinary circumstances, the protein tau contributes to the normal, healthy functioning of brain neurons. In some people, though, it collects into toxic tangles that damage brain cells.
The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania has established a new Program of Excellence for Motor Neuron Disease.
Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy.
Within a week of Christmas day, a drug called nusinersen will be in the hands of doctors across the nation, who will use it, most urgently, to treat young children with a severe and potentially fatal illness called spinal muscular atrophy (SMA).
Ionis Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration has approved SPINRAZATM (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients.
The Muscular Dystrophy Association today celebrated news of the U.S. Food and Drug Administration's decision to grant approval for nusinersen (brand name Spinraza), the first disease-modifying drug to treat the most common genetic cause of death in infants.
The U.S. Food and Drug Administration today approved Spinraza (nusinersen), the first drug approved to treat children and adults with spinal muscular atrophy (SMA), a rare and often fatal genetic disease affecting muscle strength and movement.
An international research team led by the University of Leicester has made a breakthrough advance that could pave a new route for the development of anti-cancer drugs.
For the first time, scientists found that in spinal muscular atrophy (SMA), the affected nerve cells that control muscle movement, or motor neurons, have defects in their mitochondria, which generate energy used by the cell.
Scientists from Harvard Medical School have identified a key instigator of nerve cell damage in people with amyotrophic lateral sclerosis, or ALS, a progressive and incurable neurodegenerative disorder.
A major milestone was reached when nusinersen, an investigational treatment for spinal muscular atrophy (SMA), was shown to significantly improve achievement of motor milestones in babies with infantile-onset SMA, according to an interim analysis of the double-blind, randomized, placebo controlled Phase 3 clinical trial called ENDEAR.
According to studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time.
Furthermore, it will also be used in physiotherapy in hospitals to prevent the secondary effects associated with the loss of mobility in this illness. The technology, which has been patented and licensed jointly by CSIC and its technology-based business unit, Marsi Bionics, is currently in the preclinical phase.
Many pediatricians and pediatric subspecialists believe that their clinical care extends from treating ill children through end-of-life care. However, are pediatricians actually meeting the needs of families and their dying child? In a new study scheduled for publication in The Journal of Pediatrics, researchers surveyed bereaved parents and found that pediatric end-of-life care needs improvement.
Spinal muscular atrophy (SMA) is a disease that causes progressive degeneration in the nerve cells that control muscles, thereby causing muscle weakness and eventually death.
Long-term exercise appears to be beneficial for Spinal Muscular Atrophy (SMA) like mice, suggesting a potential of active physiotherapy for patient care; according to a study published today in the Journal of Physiology.
Dr. Elliot J. Androphy, the Kampen-Norins Professor and chair of the Department of Dermatology at the Indiana University School of Medicine, has been awarded an IGNITE, or Innovation Grants to Nurture Initial Translational Efforts, grant by the National Institutes of Health.
Neuroscientists have discovered a specific enzyme that plays a critical role in spinal muscular atrophy, and that suppressing this enzyme's activity, could markedly reduce the disease's severity and improve patients' lifestyles.