May 12, 2026

@michaelokun

Ravits and colleagues describe in a new paper in JAMA how ALS diagnosis, genetics and treatment are rapidly evolving. ALS stands for amyotrophic lateral sclerosis, a progressive neurodegenerative disease affecting upper and lower motor neurons that control movement, speech, swallowing and breathing. Key points: - ALS typically begins as painless focal weakness such as foot drop, hand weakness or speech and swallowing difficulty and then progressively spreads through the body. - More than 60 genes have now been linked to ALS and genetic counseling/testing is increasingly important because some therapies target specific mutations such as SOD1. - Multidisciplinary ALS care teams including neurologists, therapists, respiratory specialists, dietitians and social workers improve both quality of life and survival. My take: This review captures both the reality and the growing hope surrounding ALS. We still do not have a cure, however the field is moving toward precision medicine, earlier diagnosis and more personalized care. Gene targeted therapies, biomarkers and coordinated team approaches are reshaping how we think about this disease. Here are 5 points that resonated w/ me: 1- ALS is not one single disease, and genetics are teaching us there are many biological pathways involved. 2- Early symptoms can be subtle and may initially look like orthopedic, spine or even speech related problems. 3- Multidisciplinary care matters and can meaningfully improve survival and daily function. 4- Biomarkers such as neurofilament light protein, TDP43 and others may eventually help identify disease earlier and track progression more precisely. 5- The emergence of therapies like tofersen offers proof that targeting the underlying biology of ALS is possible and may open the door to future precision treatments. https://cutt.ly/NtCVPfUL #ALS #AmyotrophicLateralSclerosis