Succinic semialdehyde dehydrogenase deficiency
May. 26, 2023
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MedLink Neurology Podcast is delighted to feature selected episodes from BrainWaves, courtesy of James E Siegler MD, its originator and host. BrainWaves is an academic audio podcast whose mission is to educate medical providers through clinical cases and topical reviews in neurology, medicine, and the humanities, and episodes originally aired from 2016 to 2021.
Originally released: March 21, 2019
Nobody is getting any younger, which is too bad. Muscle cramping...fatigue...stiffness... you'll be dealing with it more and more. “It's probably nothing,” you tell yourself. But what if it's not? Every once in a while, you might come across a case of myotonia. And you won't want to miss it. This week on BrainWaves, Dr. Noah Levinson provides a brief overview of myotonia and the conditions that are associated with it.
Produced by James E Siegler. Music courtesy of Yshwa, Steve Combs, MMFFF, and Scott Holmes. Sound effects by Mike Koenig and Daniel Simion. BrainWaves' podcasts and online content are intended for medical education only and should not be used for clinical decision-making. Be sure to follow us on Twitter @brainwavesaudio for the latest updates to the podcast.
Miller TM. Differential diagnosis of myotonic disorders. Muscle Nerve 2008;37(3):293-9. PMID 18067134
Okkersen K, Jimenez-Moreno C, Wenninger S, et al. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol 2018;17(8):671-80. PMID 29934199
Sansone VA. The dystrophic and nondystrophic myotonias. Continuum (Minneap Minn) 2016;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915. PMID 27922499
Thornton CA, Wang E, Carrell EM. Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev 2017;44:135-40. PMID 28376341
We believe that the principles expressed or implied in the podcast remain valid, but certain details may be superseded by evolving knowledge since the episode’s original release date.