Weekly Spotlight - 03.10.24

In the News

Brain Abnormalities in SMA Patients Revealed by MRI Scans

A recent study from McGill University has revealed that individuals with spinal muscular atrophy (SMA) are seven times more likely to exhibit brain abnormalities on MRI scans compared to those without the disease. The research, published in Neurology Genetics, found that these abnormalities were particularly prevalent in patients with more severe forms of SMA, such as type 1, and those with fewer copies of the SMN2 gene. The most common abnormalities included enlarged brain ventricles and widened arachnoid spaces, suggesting a potential link between SMA and brain structure changes.

Interestingly, the study also noted that these brain abnormalities were more frequent in patients with less than three SMN2 gene copies, hinting at a correlation between gene count and disease severity. While the exact cause of these structural changes remains unclear, the findings open new avenues for understanding SMA's impact on the brain and could inform future treatment and rehabilitation strategies. However, the researchers emphasised the need for larger, longitudinal studies to validate these results and further explore the relationship between motor dysfunction, treatment, and brain structure in SMA.

Understanding Spinal Muscular Atrophy: Types, Challenges, and Care Strategies

Spinal Muscular Atrophy (SMA) is a genetic disorder that severely impacts motor neurons in the spinal cord, leading to muscle weakness and atrophy. Dr Jasodhara Chaudhari, a Consultant Neurologist, explains that SMA's progression varies by type, from severe (Type 1) to milder forms (Type 4). Early diagnosis and multidisciplinary care are crucial for managing symptoms and improving quality of life. Despite its rarity, SMA presents significant challenges for patients and their families, including emotional, physical, and financial strains.

Understanding SMA's progression is key to effective management. Advances in molecular genetics have led to promising therapeutic approaches, though no cure exists yet. Multidisciplinary care involving paediatricians, neurologists, and other specialists can help manage symptoms and enhance patients' quality of life. For caregivers, support through education and respite services is essential. Dr Chaudhari emphasises that while SMA is challenging, ongoing research and comprehensive care offer hope for better outcomes and prolonged independence.

Vietnamese Baby with Rare Disease Successfully Treated in Shanghai

The Children's Hospital of Fudan University has successfully treated a Vietnamese baby girl with spinal muscular atrophy type 1, a severe and rare genetic disease. After three months of intensive care, the baby, who initially suffered from severe complications like pneumonia and respiratory failure, has shown remarkable improvement. She can now breathe independently and move her upper limbs freely. This case highlights the hospital's expertise in rare disease treatment and its role in advancing international medical tourism.

The hospital's multidisciplinary team continuously refined the treatment plan, earning the trust and cooperation of the baby's parents. This success underscores the hospital's leadership in SMA research and treatment, including innovative gene therapy and the establishment of a national SMA diagnosis and treatment network. The hospital's efforts are not only enhancing China's influence in SMA treatment but also bringing hope to patients and families worldwide.

Fresno Infant with Rare Disease Shows Remarkable Progress

Almost a year ago, the Lazaros welcomed twins Rykker and Bekkem, but their joy was tempered when Rykker was diagnosed with Spinal Muscular Atrophy (SMA). Thanks to a groundbreaking treatment, ZolgenSMA, Rykker has shown improvement, though his journey involves numerous medical appointments and therapies. Despite the challenges, the Lazaros cherish every moment, celebrating milestones like the twins' first birthday with a renewed outlook on life.

In their quest to support Rykker and others with SMA, the Lazaros have established a foundation to raise funds for medical expenses and contribute to SMA research. Their mission is not only to spread awareness but also to ensure a better quality of life for Rykker, driven by their faith and optimism.

Factors Influencing Scoliosis Risk in Spinal Muscular Atrophy Patients

Researchers have delved into the factors influencing scoliosis risk in children with spinal muscular atrophy (SMA), revealing some intriguing findings. The type of SMA plays a significant role, with type III patients showing the lowest risk and type II patients developing scoliosis later than those with type I. Gross motor function emerged as a crucial factor, with an HFMS score above 23 acting as a protective measure against scoliosis. Interestingly, the number of SMN2 copies, previously thought to predict scoliosis risk, did not show a significant correlation in this study.

Disease-modifying agent (DMA) treatments have shown promise in reducing scoliosis risk, offering a protective effect and potentially delaying its onset. The study, which followed 165 patients over nearly a decade, underscores the importance of early detection and the potential benefits of DMA treatments. While the sample size was relatively small, the findings pave the way for future research to refine radiographic surveillance timing and assess the impact of scoliosis on quality of life in SMA patients.

Sonu Sood Aids Baby with Spinal Muscular Atrophy

Actor and philanthropist Sonu Sood has once again demonstrated his commitment to helping those in need, this time by supporting seven-month-old Sehrish Fatima, who is battling Spinal Muscular Atrophy (SMA) Type 1. SMA is a severe disorder causing muscle weakness, and the treatment costs a staggering Rs. 16 crores. Sood's crowdfunding efforts have already saved the lives of 11 infants suffering from the same condition. His recent appeal to the public to contribute to Sehrish's cause has gained significant momentum, showcasing the actor's influence and dedication.

In addition to his philanthropic endeavours, Sood is also busy with his directorial debut, "Fateh," a cybercrime thriller set to release on January 10, 2025. The film, featuring Naseeruddin Shah and Jacqueline Fernandez, explores the theme of cyberbullying. Sood's multifaceted career continues to inspire, blending his passion for acting with a profound commitment to social causes through his NGO, Sood Charity Foundation. His work during the COVID-19 pandemic and beyond has earned him widespread admiration and respect.