Respiratory muscle training in spinal muscular atrophy (SMA) has the potential to stabilize or improve breathing function, a study has found, although the findings need to be substantiated by further research. In the study, adults and children with SMA demonstrated a dose-dependent increase in breathing muscle fatigue using a…
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A new mutation in the UBEA1 gene was identified as the cause of an atypical form of spinal and bulbar muscular atrophy (SBMA), or Kennedy’s disease, in four men of an Iranian family, a study shows. While UBEA1 mutations are typically associated with X-linked infantile spinal muscular atrophy (SMA), which is…
New York Fashion Week is known for its statement dresses and elegant models. But this year, one runway show will be slightly different, featuring people in wheelchairs wearing clothes designed for both fashion and accessibility. Models with spinal muscular atrophy (SMA) will drive down the runway on Sept. 8…
The introduction of Spinraza (nusinersen) as a treatment for spinal muscular atrophy (SMA) in Sweden was associated with trends of improved survival in children diagnosed with the disease before they were 2 years old, a nationwide population-based study shows. While these trends did not reach statistical significance relative…
In its final decision, the Canadian Agency for Drugs and Technologies in Health (CADTH) recommended against Spinraza (nusinersen) being reimbursed to treat adults with spinal muscular atrophy (SMA). The decision was met with dismay by the SMA community and Biogen, Spinraza’s manufacturer. “We are absolutely devastated for the…
Prescribing information for Zolgensma (onasemnogene abeparvovec-xioi), an approved gene therapy for spinal muscular atrophy (SMA), is being updated following the death of two patients who developed acute liver failure after treatment. Acute liver failure was known to be a potential severe side effect of Zolgensma, highlighted in a…
The sense of physical fatigue and perceived fatigability, or the impact of reduced physical performance on daily life activities, are frequent and disabling symptoms in adults with spinal muscular atrophy (SMA) at different functional levels, a study showed. Such symptoms — whose frequency was generally associated with motor impairment — were…
Doctors expected Stephen Mikita to live for six months after his diagnosis, in the late 1950s, with spinal muscular atrophy (SMA) type 2. Now 66, Mikita can look back on a successful career in law, first as a law clerk to the late U.S. Sen. Orrin Hatch, a Republican…
Newborn screening for spinal muscular atrophy (SMA) leads to better outcomes, with babies being diagnosed earlier and with prompt access to life-saving treatments, according to three-year data from the SMA screening program in the state of New York. Gene therapy was the main treatment strategy, and delays in getting…
Children diagnosed with spinal muscular atrophy (SMA) are usually informed about the diagnosis by their parents, who frequently lack support and information about the disease, ultimately leading to poor communication that can be emotionally painful for everyone involved, according to a new study. “Poor communication has a double negative…
