A recent review explored the current evidence regarding the genetic mechanisms implicated in Spinal Muscular Atrophy and its potential applicability for the development of treatments. The review entitled “The Genetics of Spinal Muscular Atrophy: Progress and Challenges” recently published in the journal Neurotherapeutics, was conducted…
A recent study identified several key health-related factors as the most concerning issues for both patients/families and healthcare professionals that deal with Spinal Muscular Atrophy. The study, entitled “Assessing the Needs of the SMA Population: Survey Results of Health Care Providers and Families,” was recently published in the…
2014 National Goodwill Ambassador announcement at Harley-Davidson headquarters, in Milwaukee Nine-year-old Reagan Imhoff has been chosen as the 2015 National Goodwill Ambassador, after spending 2014 traveling across the country to give a face and a voice to the Muscular Dystrophy Association (MDA). Despite the difficulties of suffering from…
Spinal muscular atrophy (SMA) is a genetic condition that is typically first diagnosed in infants and young children and is associated with high mortality in this population. SMA causes muscle weakness and progressive loss of movement. SMA is triggered by progressive deterioration in the nerve cells connecting the brain…
A recent review entitled “Neurodegeneration in spinal muscular atrophy: from disease phenotype and animal models to therapeutic strategies and beyond,” recently published the journal Future Neurology, discussed current evidence on SMA with a specific focus on the existing treatment options. Spinal muscular atrophy (SMA) is an autosomal…
A study entitled “The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice” examined the effect of maternal diet in the gene SMN2 inducer in mice models with spinal muscular atrophy. The study was published in the journal Experimental Neurology. Proximal…
A recent review of current evidence on the pathogenesis of SMA based on the gene SMN was conducted by Kathryn Swoboda from the Department of Neurology, University of Utah School of Medicine. The perspectives Dr. Swoboda offers in the review suggest that experimental SMN-targeted therapeutics are indeed highly promising for treating…
Findings from a new study published in the journal Molecular Therapy offer a promising therapeutic strategy for patients with Spinal Muscular Atrophy (SMA). Spinal muscular atrophy (SMA) is an autosomal recessive disorder that causes loss of motor neurons and atrophy of the muscle, with patients presenting loss of…
In a recent study entitled “Spinal Muscular Atrophy Phenotype Is Ameliorated Either By SMN Increase Or Modulation Of Secondary Cell Death Events With RNA Therapy (S56.006),” a team of researchers from Milan, Italy, using a stem cell model sought to develop treatment approaches based on RNA for patients with…
A study entitled “Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophy,” published in the journal Neuromuscular Disorders, found that removal of genes specifically implicated in muscle atrophy does not improve Spinal Muscular Atrophy phenotype. Spinal muscular atrophy…
