American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM)

Dr. Ted Burns interviews Dr. Michael Benatar about his article, Presymptomatic ALS genetic counseling and testing: Experience and recommendations. Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS. Neurology. 2016 Jun 14;86(24):2295-302

Dr. Ted Burns interviews Dr. Gil Wolfe about his article Randomized Trial of Thymectomy in Myasthenia Gravis. Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. A multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone was done. The results showed thymectomy improved clinical outcomes over a 3-year period in patients with nonthymomatous myasthenia gravis. (Funded by the National Institute of Neurological Disorders and Stroke and others; MGTX ClinicalTrials.gov number, NCT00294658.). N Engl J Med. 2016 Aug 11;375(6):511-22.

Dr. Ted Burns interviews Dr. Gil Wolfe about his article Randomized Trial of Thymectomy in Myasthenia Gravis. Thymectomy has been a mainstay in the treatment of myasthenia gravis, but there is no conclusive evidence of its benefit. A multicenter, randomized trial comparing thymectomy plus prednisone with prednisone alone was done. The results showed thymectomy improved clinical outcomes over a 3-year period in patients with nonthymomatous myasthenia gravis. (Funded by the National Institute of Neurological Disorders and Stroke and others; MGTX ClinicalTrials.gov number, NCT00294658.). N Engl J Med. 2016 Aug 11;375(6):511-22.

Dr. Ted Burns interviews Dr. Timothy Dillingham about the Normative Data Taskforce (NDTF) report on establishing high quality reference values for nerve conduction studies (NCS). Because there are not uniform standards for NCS in the United States, the NDTF developed consensus-based methodological criteria for examining NCS and applied this quality criteria to a systematic review of the published literature. The NDTF has done the difficult work of scouring the literature and identifying high quality articles for our members. Nerve conduction testing techniques and normative reference values from these studies that met a high quality standard are now presented for our membership to use in an easy to follow tabular format. Two reports on the work of the NDTF were published in the September issue of Muscle and Nerve: Muscle Nerve. 2016 Sep;54(3):366-70. doi: 10.1002/mus.25204 and Muscle Nerve. 2016 Sep;54(3):371-7.

Dr. Ted Burns interviews Dr. Timothy Dillingham about the Normative Data Taskforce (NDTF) report on establishing high quality reference values for nerve conduction studies (NCS). Because there are not uniform standards for NCS in the United States, the NDTF developed consensus-based methodological criteria for examining NCS and applied this quality criteria to a systematic review of the published literature. The NDTF has done the difficult work of scouring the literature and identifying high quality articles for our members. Nerve conduction testing techniques and normative reference values from these studies that met a high quality standard are now presented for our membership to use in an easy to follow tabular format. Two reports on the work of the NDTF were published in the September issue of Muscle and Nerve: Muscle Nerve. 2016 Sep;54(3):366-70. doi: 10.1002/mus.25204 and Muscle Nerve. 2016 Sep;54(3):371-7.

Dr. Ted Burns interviews Dr. Chafic Karam about his article Rapid screening for inflammatory neuropathies by standardized clinical criteria. In this podcast, he discusses the Class IV evidence that 3 neuropathy characteristics—onset, distribution, and associated systemic features—accurately identify patients with inflammatory neuropathies. Rapid screening for inflammatory neuropathies by ODS clinical criteria is highly sensitive and has a high negative predictive value for noninflammatory neuropathies. ODS uses simple clinical criteria to rapidly screen for patients with a potentially treatable form of neuropathy and accelerate their diagnostic evaluation. Neurol Clin Pract 10.1212.

Dr. Justin Willer interviews Dr. Kelly Gwathmey about her article, Sensory Neuronopathies. The sensory neuronopathies (or ganglionopathies) are a small subcategory of neuropathies characterized by primary degeneration of the dorsal root ganglia and trigeminal ganglion sensory neurons, resulting in a distinctive clinical presentation. Patients typically have subacute onset of asymmetric, non–length-dependent sensory impairment and early ataxia. The etiologies of acquired sensory neuronopathies are rather limited. Early identification is imperative, as they may herald an underlying malignancy or an autoimmune condition such as Sjögren syndrome. This podcast reviews the Muscle and Nerve article on this subject. Muscle Nerve 53: 8–19, 2016.