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.
The most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)- rare and related neurological disorders marked by progressive deterioration of motor or cognitive abilities- may be due to errors in RNA splicing, an intermediary step for translating genetic instructions into functional proteins.
Spinal muscular atrophy, a neurodegenerative disease that causes progressive muscle wasting and paralysis, may be partly due to abnormalities in the synapses that connect sensory neurons and motor neurons, according to researchers at Columbia University Medical Center.
For the first time, a variant in UBQLN4 gene has been associated with Lou Gehrig's disease or amyotrophic lateral sclerosis (ALS) - a progressive disease resulting in the loss of nerve cells that control muscle movement, which eventually leads to paralysis and death.
Though spinal muscular atrophy in its most severe form remains incurable and fatal in early childhood, researchers are sustaining a multipronged counterattack for patients and their families. The first treatment for the disease gained U.S. market approval in December.
Biogen today announced the Committee for Medicinal Products for Human Use of the European Medicines Agency adopted a positive opinion recommending the granting of a marketing authorization for SPINRAZA to treat patients with spinal muscular atrophy (SMA).
Scientists report a significant step toward combatting two degenerative brain diseases that chip away at an individual's ability to move, and think.
They may seem rigid and set in their ways, but your bones are actually under constant construction and deconstruction. They give up their nutrient treasures (calcium) to the body and then rebuild in a constant give-and-take sort of rhythm.
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.