Currently used clinical scales for men with spinal and bulbar muscular atrophy (SBMA) can be easily and reliably used remotely to monitor disease progression when patients are unable to visit a doctor’s office, according to a study in Italy. The study, “Reliable virtual clinical assessment in spino-bulbar muscular…
For a boy with spinal muscular atrophy (SMA) type 2, wearing a robotic gait-training device at home led to mobility gains and enabled him to participate in new activities like games and sports, a case study has found. According to a nursing assessment, the training was well-tolerated, with only…
Hip pain is about four times more common among children with spinal muscular atrophy (SMA) type 2 than among those with type 1 disease, according to a study on pediatric patients who were unable to walk. While nearly all children had evidence of hip joint problems on X-ray…
People with spinal muscular atrophy (SMA) feel the need to engage in physiotherapy exercises, which they see as a beneficial intervention, but most don’t adopt a special diet, despite frequent nutrition-related problems. These are the findings of a survey by SMA Europe presented through a poster at the…
The Muscular Dystrophy Association (MDA) has awarded $17 million among 70 new grants toward neuromuscular disease research, including $510,000 to two projects focused on spinal muscular atrophy (SMA). “The Muscular Dystrophy Association continues to fund the most innovative research that will lead to cures for a range of…
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…
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…