Weekly Spotlight - 12.12.24

Evrysdi Brings Hope: Improved Hand Strength for SMA Type 2 and 3 Adults

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Evrysdi has shown promise in improving hand strength and motor function for adults with SMA types 2 and 3, according to a small French study. Patients reported enhanced quality of life, including better breathing and dexterity. The treatment was well-tolerated, highlighting its potential benefits for SMA management.

Experts stress the importance of raising awareness about Spinal Muscular Atrophy symptoms for early diagnosis and management. SMA causes muscle weakness, affecting infants development. A multidisciplinary approach, including emotional support, is vital for improving patients quality of life. Awareness helps ensure timely care and support for affected families.

Gene therapies for spinal muscular atrophy show promise in preserving swallowing function, reducing invasive interventions and complications like aspiration pneumonia. Research indicates improvements in swallowing post-treatment, especially in severe cases. This advancement offers hope for SMA patients, enhancing quality of life and reducing associated health risks.

Two 12-year-olds, initially diagnosed with cerebral palsy, were later found to have spinal muscular atrophy. Early misdiagnosis delayed appropriate treatment. This case highlights the importance of comprehensive care and recognising neuromuscular symptoms for accurate diagnosis, ensuring better therapeutic decisions and improved patient outcomes.

This study explored fall risks in adults with spinal muscular atrophy, focusing on gait speed. Results showed no significant difference in 6-minute gait speeds between fallers and non-fallers. However, fallers experienced a greater decline in speed, highlighting the need for further research on fatigue and fall prevention.

Health Spotlight’s Spinal Muscular Atrophy is a Contentive publication in the Healthcare division