Spinal Muscular Atrophy Insights

Manitoba Boy Seeks Meeting with Health Minister Over Rare Disease Treatment

Jeremy Bray, who has spinal muscular atrophy, met with Manitoba's health minister to discuss access to a new treatment that could significantly improve his quality of life. The meeting aimed to address the challenges in accessing this life-changing therapy for individuals with SMA in the province.

UAE Premarital Screening Reduces Genetic Disorder Cases

UAE's premarital screening program aims to reduce cases of spinal muscular atrophy by identifying genetic carriers before marriage. Early detection can help couples make informed decisions about family planning and prevent the transmission of the disease.

Woman on Spinraza Gives Birth to Healthy Child Despite SMA Diagnosis

A woman with spinal muscular atrophy gave birth to a healthy child while undergoing Spinraza treatment, highlighting the potential benefits of this therapy for pregnant women with the condition. The case suggests that Spinraza may not harm the fetus and could help manage the mother's symptoms during pregnancy.

Recent advancements in spinal muscular atrophy (SMA) research have provided new insights into treatment and disease monitoring. A phase 3 clinical trial, as reported by Bagha (2025), has shown that gene therapy can increase mobility and slow the progression of SMA type 2 in young individuals. This therapy, specifically onasemnogene abeparvovec administered intrathecally, met its primary endpoint of improving baseline mobility in patients aged 2 to 17 years.

In another study, Regina (2025) found that spinal cord gray matter atrophy is significantly associated with disability in SMA patients. Advanced MR-imaging techniques revealed that this atrophy correlates with clinical measures of upper limb function and overall physical assessment scores, suggesting its potential as a biomarker for disease progression and therapeutic response.

Lastly, Krajewski et al. (2025) highlighted the issue of hip instability in children with SMA, noting that hip subluxation and dislocation are common but often not monitored or treated due to the medical complexity of these patients. This study emphasizes the need for attention to hip migration and acetabular morphology to better understand and manage hip instability in pediatric SMA.