Respiratory Weakness in SMA Most Pronounced in Childhood, Study Finds
Lung function in people with earlier-onset forms of spinal muscular atrophy (SMA) tends to decline gradually throughout childhood and stabilizes in early adulthood, according to data from a population-based natural history study. The study, “Natural history of lung...
Lung Ultrasound Reliable Option to Chest X-rays for Monitoring Children
Lung ultrasound is a safe and reliable bedside tool to detect atelectasis (partial lung collapse) early in children with neuromuscular diseases, including spinal muscular atrophy (SMA), a study suggests. This radiation-free method could be used to monitor lung health...
SBMA Seen to Affect Skeletal Muscles First, Not Motor Neurons
Although a disease of motor neurons, nerve cells of the spinal cord and brainstem, the earliest signs of spinal and bulbar muscular atrophy (SBMA) are in skeletal muscles, according to data from a mouse study. These findings suggest that changes in muscle strength and...
Benefits of Long Sitting Unsupported In a Patient With SMA
When working with a patient with SMA, you will most likely find that their sitting balance is not optimal while sitting unsupported, due to a lack of core strength. While every patient has different strengths and weaknesses, as well as abilities and disabilities, it...
Growth-friendly Spinal Implants May Help SMA Children Before Fusion Surgery
Spinal fusion surgery — a procedure to fuse two or more spine vertebrae — is more successful at reducing spine curvature in children with spinal muscular atrophy (SMA) type 1 and 2 if they have previously been given growth-friendly spinal implants, a study reports....
FDA Grants Shift’s E1v1.11 Therapy Orphan Drug Status for SMA
Shift Pharmaceuticals said its investigational lead therapy E1v1.11 has been granted orphan drug designation by the U.S. Food and Drug Administration (FDA) as a potential treatment option for spinal muscular atrophy (SMA). SMA is caused by mutations in the survival...
Pediatric Rare Disease Therapies Increase, But Most Repurposed, Study Finds
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these...
Study Addresses Dilemmas Regarding Newborn Screening and SMA Treatment
As newborn screening for spinal muscular atrophy (SMA) becomes more common, ethical dilemmas will arise about the best treatment strategy for individuals with four copies of the SMN2 gene, a new study contends. The study, “Infants Diagnosed with Spinal Muscular...
Physical Therapy With An SMA Patient During The COVID-19 Pandemic
With the pandemic occurring around us, there have been many changes for everyone in everyday life. Physical Therapy is an essential medical practice and has stayed open during this pandemic, but there have been changes made to protect us and our patients. We have...HCP — SMA News Today
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