Advances in Neuromuscular Medicine - Part 1-Advances in Neuromuscular Medicine

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Video Summary

Advances in neuromuscular medicine have led to the development of various therapies for conditions such as spinal muscular atrophy (SMA). Three therapies that have been approved are nusinersen, a antisense-based oligonucleotide therapy delivered through intrathecal injections, gene therapy using adeno-associated viral vectors to replace the SMN1 gene, and rizdeplam, a small molecule therapy taken orally. These therapies aim to restore levels of the survival motor neuron (SMN) protein, which is reduced in SMA. Clinical trials have shown promising results. The nusinersen trial demonstrated improved motor function and survival in infants with SMA type 1. Gene therapy trials have shown significant increases in motor function and overall survival. Rizdeplam trials have shown improved motor function and independent sitting in infants with SMA type 1. However, challenges remain. Early diagnosis and treatment are crucial in order to achieve the best outcomes. Monitoring and managing function in individuals who have received these therapies is important, as some residual deficits may remain. Additionally, more research is needed to develop biomarkers and better understand the long-term effects of these therapies. Despite these challenges, the field of neuromuscular medicine is rapidly advancing, and physiatrists play an important role in optimizing function and improving outcomes for individuals with neuromuscular conditions.

Keywords

neuromuscular medicine

spinal muscular atrophy

nusinersen

gene therapy

rizdeplam

survival motor neuron protein

clinical trials

early diagnosis and treatment

physiatrists