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 contraction are early disease…
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Continuing treatment for spinal muscular atrophy (SMA) is essential and should not be considered elective, or be delayed or interrupted if possible, despite the healthcare limitations imposed by the COVID-19 pandemic. These are the main recommendations given unanimously by a panel…
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 and identify partial lung collapse in a patient group already highly…
A family’s journey through the diagnosis and treatment of their baby girl, born with spinal muscular atrophy type 1 (SMA1), was the focus of a paper written by her mother and the doctors, highlighting the importance of cooperation between parents and clinicians in caring for children with SMA. Ultimately,…
The interplay between different types of nerve cells, including motor neurons and glial cells, seems to be at the root of motor neuron degeneration and denervation, or the loss of nerve supply, that characterizes spinal muscular atrophy (SMA), a review study reports. The study, “…
Roche’s experimental oral treatment risdiplam can safely and effectively halt disease progression in infants with type 1 spinal muscular atrophy (SMA) under 7 months of age, according to top-line data from Part 2 of the FIREFISH trial. After one year of treatment, most of these 41 babies…
While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…
Blood levels of biomarkers of muscle mass and damage — rather than nerve cell damage — are significantly altered in people with spinal and bulbar muscular atrophy (SBMA) and in a mouse model of the disease, a study has found. Data also highlighted that the levels of creatinine,…
Mutations in genes that interact with the SMN protein, which is lacking or present at low levels in spinal muscular atrophy (SMA) patients, are not able to explain the wide range of severity found in all forms of the disease, a study reports. The study, “Analysis…
The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…
