AANEM Meeting Highlights Precision Medicine, Access to Care, and Technology for Neuromuscular Diseases


The American Association of Neuromuscular and Electrodiagnostic Medicine 34th Annual Meeting was held in Washington, DC October 10-12. The theme of the meeting was precision medicine, which included sessions focused on genetic diagnosis, RNA-based therapies, gene replacement therapy and more.

Multiple presenters pointed out lower costs of ordering genetic tests and that some gene panels are available at no cost through companies or the Multiple Dystrophy Association (MDA). This testing is able to specifically detect many specific diagnoses, and that it is another tool for clinicians to use along with clinical evaluation, electrodiagnosis, imaging, and biopsies.

For example, it was reported that in a cohort of 269 individuals with Duchenne muscular dystrophy (DMD), 68% had a positive genetic diagnosis, and of these 45.4% had treatable pathogenic variants. Similarly, a blinded retrospective review showed that people with different types of myasthenia gravis, molecularly identified, respond differently to thymectomy.

Data showing continued safety and efficacy of recently approved RNA-based therapies for spinal muscle atrophy (SMA) and hereditary transthyretin-mediated ATTR amyloidosis (hATTR), both of which can be diagnoses accurately with genetic testing. Plenary sessions educated attendees on how these drugs have been developed and what new drugs based on this technology are in the pipeline.

In addition, as many of the new RNAi-based and gene therapies are expensive and require extensive documentation for preauthorization and reimbursement, there were multiple talks on health care policies as they related to precision medicine.

Multiple presentations and workshops on neuromuscular ultrasound supported the use of ultrasound in day-to-day practice. Like genetic testing, ultrasound was described as a new tool in the physician’s armamentarium that complements clinical evaluation, electrodiagnostic studies, genetic testing and biopsy. Several experts suggested that in 25% to 30% of focal neuromuscular disease, the use of ultrasound was the key to diagnosis.

Presentations on motion-sensing technology and the mind-brain interface provided insights into how data science, artificial intelligence, engineering, and clinical medicine are coming together to develop new options for patients with paralysis. The 35th Annual Meeting of the AANEM will be Oct 16-19 in Austin, TX with a theme of technologic advances in neuromuscular medicine.

Co-chair of the Program Committee and Chair of Neurology at Virginia Commonwealth University, A. Gordon Smith, MD noted, “From the new trainee, to the clinician who wants to build their skills, to the researchers conducting clinical trials, this meeting has something for everyone. As precision medicine becomes part of everyone’s day-to-day practice, we are on the cusp of revolutionary advances in neuromuscular medicine; coming to the meeting is a great way to learn how to put this new information to practical use.”


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