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…
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…
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…
Rehabilitation sessions using a robotic suit called ATLAS 2030 improved joint strength and mobility in three boys with spinal muscular atrophy (SMA) type 2, according to data from a clinical trial. While wearing the device, the boys, who could not walk independently, were able to complete tasks involving standing,…
Initiating a disease-modifying therapy (DMT) before the onset of symptoms and at the earliest time possible results in the best outcomes in infants with spinal muscular atrophy (SMA), with most achieving otherwise unachievable motor milestones and within the normal age range. This is particularly crucial for infants likely…
Undergoing physical therapy nearly every day while on Spinraza (nusinersen) leads to significantly greater motor improvements than occasional sessions for children and adolescents with spinal muscular atrophy (SMA), a small study suggests. These benefits — detected in patients with SMA type 1, type 2, and type…
Two children genetically diagnosed with spinal muscular atrophy (SMA) before birth and starting treatment with Spinraza (nusinersen) within the first days of life have shown normal motor development, including a girl who is now almost 6 years old, a study reports. The girl was likely to develop SMA…
A Phase 3 clinical trial evaluating Biohaven Pharmaceuticals’ taldefgrobep alfa as an add-on therapy in children and young adults with spinal muscular atrophy (SMA) has enrolled its first patient. The trial, dubbed RESILIENT (NCT05337553), expects to recruit up to 180 SMA patients already on disease-modifying therapies (DMTs), and…
Zolgensma safely and effectively halts disease progression in infants genetically diagnosed with spinal muscular atrophy (SMA) but not yet showing symptoms, according to final data from the SPR1NT Phase 3 clinical trial. “When treated with Zolgensma prior to the onset of symptoms, not only did all 29 patients…
Researchers in China report having developed a fast and reliable way for a genetic diagnosis of spinal muscular atrophy (SMA) and to identify carriers, those who do not have the disease but can still pass it to their children. Called mass spectrometry-copy number variation, or MS-CNV, the new method was found…
