New protein biomarkers that can distinguish between the different types of spinal muscular atrophy (SMA) were identified in a recent study. According to researchers, the discovery supports further investigation to determine their utility as biomarkers for patient classification, monitoring treatment effectiveness, and identifying severity-specific treatments. Findings were detailed in…
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Microvasculopathy — damage to small blood vessels — occurs in patients with spinal muscular atrophy (SMA) and it can be made better by systemic SMN-restoring treatment, a new study reports. Survival motor neuron protein (SMN) is the protein that is defective in SMA. The available SMA treatments increase the…
Levels of the hunger hormone leptin are not associated with motor function in children and adolescents with spinal muscular atrophy (SMA) types 2 and 3, according to a Serbian study. Higher leptin was linked to a greater body mass index (BMI) — a surrogate marker of body fat —…
Moderate-intensity resistance training led to gains in muscle strength, balance and functional improvements in a man with mild impairments due to spinal and bulbar muscular atrophy (SBMA), according to a recent case report. “This case report highlights one individual with SBMA who benefitted from moderate-intensity exercise, including weight lifting,…
Note: This story was updated Sept. 19, 2022, to correct that 78.9% of the survey respondents would choose an ASO or a small molecule therapy, such as Evrysdi (risdiplam), if they were approved therapies. Many members of the spinal muscular atrophy (SMA) community are interested in the…
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…
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…
