Podcasts about myotonic

  Hello, and welcome to episode 175 of the Childless Not by Choice Podcast. My name is Civilla Morgan. My mission is to recognize and speak to childless women and men not by choice worldwide, reminding us that we can live joyful, relevant, and fulfilled lives, childless by choice.   Whether you have children or not, thank you for tuning in!     What is today's show about? Father's Day and Men's Health   Thank you, Patreon contributors: I would like to thank my Patreon contributors, who support the platform every month.    Your contributions help me pay my podcast producer, my podcast host, Zoom, where I interview most of my guests, and other expenses. Thank you very much!        If you are not yet a Patron, visit patreon.com/childlessnotbychoice to set up your monthly contribution. No matter your giving level, I have a gift for you!   If you prefer to give via PayPal, you can find me there at booksbycivillamorgan@gmail.com.  Your contributions to the platform are greatly appreciated! Thank you!   https://www.patreon.com/Childlessnotbychoice   Questions or comments? Contact me at:   Email: Info@civillamorgan.com                                                  Or   Visit the website at www.childlessnotbychoice.net, look to the left on the home screen, and click on the link below the telephone to leave me an up to 90-second voicemail. Body of episode: FATHER'S DAY  MEN'S HEALTH  So, well before President Biden's prostate cancer diagnosis, I had planned on discussing men's health for this year's Father's Day episode. In particular, I wanted to discuss causes of male childlessness, such as Azoospermia.  I've decided to put links in the show notes in regards to Azoospermia. Please check out the links for further information.  The basic definition of Azoospermia per The Cleveland Clinic website is:   ‘Azoospermia means there's no sperm in your ejaculate. Its causes include a blockage along the reproductive tract, hormonal problems, ejaculation problems or issues with testicular structure or function. Many causes are treatable. For other causes, it may be possible to retrieve live sperm to be used in assisted reproductive techniques like IVF.‘    As I think back through my episodes, I don't believe I've ever discussed men's health, or medical reasons men may be childless.  We've discussed fibroids, PCOS, endometriosis, adenomyosis, miscarriage, running out of time, aka the biological clock, MRKH, etc.  But I've never gone into much detail regarding issues surrounding the causes of childlessness in men.    I have had the great opportunity to interview several men about their experiences with childlessness, including how they have dealt with it. I will put links in the show notes on interviews I have conducted over the years with these wonderful men. Be sure to take a listen!    I also believe male childlessness is not as openly discussed as female childlessness because men and their spouses may find the issue embarrassing, shocking to their ego in a different way than a woman may feel about her childlessness, or maybe in much the same way.  In either case, there can be emotional and mental pain.    Some of the things that can cause infertility in men include:   AI Overview Male infertility can be caused by a variety of factors, including problems with sperm production or quality, hormonal imbalances, genetic disorders, infections, and environmental factors. Additionally, lifestyle choices like smoking, excessive alcohol consumption, and certain drug use can also contribute to infertility.  Here's a more detailed look at some of the key causes: 1. Sperm Problems: Low sperm count (oligospermia): A low number of sperm in the ejaculate. Absent sperm (azoospermia): No sperm in the ejaculate. Poor sperm motility: Sperm are unable to swim properly. Abnormal sperm morphology: Sperm are abnormally shaped, making it difficult for them to fertilize an egg.  2. Hormonal Imbalances:  Reduced testosterone: Low levels of testosterone can affect sperm production.  Hyperprolactinemia: Elevated levels of prolactin can interfere with sperm production.  Hormonal disorders affecting the pituitary gland or hypothalamus: These glands regulate hormone production.  3. Genetic Disorders: Klinefelter syndrome: A genetic condition affecting males. Cystic fibrosis: A genetic disorder that can cause blocked reproductive ducts. Myotonic dystrophy: A genetic disorder that can affect sperm production.  4. Infections and Inflammation: Epididymitis: Inflammation of the epididymis, the tube that carries sperm from the testicles.  Orchitis: Inflammation of the testicles.  STIs: Sexually transmitted infections like gonorrhea or chlamydia can cause inflammation and damage to the reproductive organs.  5. Environmental and Lifestyle Factors: Smoking: Smoking can reduce sperm count and quality.  Alcohol consumption: Excessive alcohol use can lower testosterone levels and affect sperm production.  Certain drug use: Anabolic steroids and other drugs can negatively impact sperm production.  Exposure to toxins or chemicals: Exposure to certain toxins, like pesticides, can affect fertility.  Obesity: Being overweight or obese can impact sperm quality.  6. Medical Conditions: Diabetes: Diabetes can affect sperm production and quality. Kidney failure: Kidney failure can also impact sperm production. Cystic fibrosis: A genetic disorder that can cause blocked reproductive ducts. Autoimmune diseases: Some autoimmune diseases can attack sperm.  7. Other Factors: Varicocele: Enlarged veins in the scrotum, which can raise testicular temperature and affect sperm production.  Testicular trauma: Injury to the testicles can damage sperm production.  Previous cancer treatment: Chemotherapy and radiation therapy can affect sperm production.  Undescended testicles: Testicles that don't descend into the scrotum.  Blockages or absences of tubes: Blockages in the reproductive tract can prevent sperm from being released.  This is for informational purposes only. For medical advice or diagnosis, consult a professional. AI responses may include mistakes. Learn more Whether you have children or not, your health is important. Be sure to go to all of your check-ups, especially if there is a family history of health issues. Get checked, don't wait.   Be OK with advocating for yourself. The healthcare industry may say no, you are too young for a particular test. But if you want that test, be insistent. Keep in mind that if your insurance does not cover the test because you are not of a certain age or whatever their parameters are, you may have to pay out of pocket.   Happy Father's Day to all the wonderful men out there who do the work of raising great people for this world.  Happy Father's Day to those of you who did not birth children, but are contributing to a child's life in beautiful and lasting ways.         Research links:   https://my.clevelandclinic.org/health/diseases/15441-azoospermia Articles/links of interest: https://ifstudies.org/blog/pronatalism-is-not-popular-yet Episode links to conversations with men: https://childlessnotbychoice.net/episode-143-the-things-men-talk-about-my-conversation-with-dr-robin-hadley/ https://childlessnotbychoice.net/episode-116-my-conversation-with-dave-jackson/ https://childlessnotbychoice.net/episode-141-downriver-nomad-my-conversation-with-rob-hutchings/ https://childlessnotbychoice.net/episode-130-about-fathers-day-and-childlessness/ https://childlessnotbychoice.net/episode-57-men-men-men-men-3/ My contact information: Website: www.childlessnotbychoice.net and www.civillamorgan.com Facebook: booksbycivillamorgan Instagram: @joyandrelevance Pinterest: Civilla M. Morgan, MSM LinkedIn: Civilla Morgan, MSM  

Send us a Text Message.What if your heart's rhythm was out of sync from birth, yet you persevered to defy medical odds? Join us as Gwenyth Murphy, a resilient second-generation congenital heart defect survivor, shares her compelling journey of managing complete heart block and other heart conditions. From coping with an abnormally low heart rate as a child to receiving her first pacemaker just before college, Gwenyth provides an inspiring look at the evolution of her treatments and the groundbreaking procedure she anticipates.Gwenyth's story takes a fascinating turn as she recounts the unexpected diagnosis of myotonic dystrophy, a condition initially masked by her heart defect symptoms. Discover how this genetic muscular dystrophy was finally identified through persistent symptoms and a critical health crisis after childbirth. Gwenyth sheds light on the often delayed and misdiagnosed nature of the condition, emphasizing the importance of comprehensive medical evaluations and genetic testing in uncovering interconnected health issues.Self-advocacy emerges as a crucial theme throughout this episode. Gwenyth's experience underscores the necessity of seeking second opinions and consulting specialists to unravel the complexities of managing multiple health conditions. We delve into her daily strategies for coping with myotonic dystrophy, including medications, physical therapy, and mobility aids, and explore the emotional and mental resilience required to navigate such a challenging medical landscape. This episode is a powerful testament to perseverance, the importance of support, and the relentless pursuit of well-being.Helpful Links:Baby Hearts Press (for The Heart of a Heart Warrior): https://www.babyheartspress.comThanks to our newest HUG Patron, Ayrton Beatty and long-standing Patrons: Laura Redfern, Pam Davis, Michael Liben, Nancy Jensen, Alicia Lynch, Deena Barber, Carlee McGuire, Carter & Faye Mayberry, and Frank Jaworski. We appreciate you!Support the Show.Anna's Buzzsprout Affiliate LinkBaby Blue Sound CollectiveSocial Media Pages:Apple PodcastsFacebookInstagramMeWeTwitterYouTubeWebsite

Lynette reached out for help with her daughter Karen and grandchildren Marno and Meane, who suffer from Myotonic Dystrophy. Marno urgently needs a Bipap machine to manage his nighttime breathing issues, while Karen and Meane also require Bipap and Cpap machines. Karen, a single mother and qualified teacher, relies heavily on her parents due to her condition and recent back surgery. The family's financial burden is immense, with Lynette's husband taking a second job to cover food, medical expenses, and therapy costs. Hot Cares

In this episode of 'Art Heals All Wounds,' I share a personal story about my daughter's diagnosis with myotonic dystrophy. How I wished to meet someone like today's guest! Alexandra LeBoeuf, a young Canadian artist and myotonic dystrophy advocate, discusses how her artwork and personal experiences have helped create a support network and raise funds for research. Alex's story illustrates the impact of art in connecting individuals with shared experiences, particularly through her creation of a logo symbolizing strength for the myotonic dystrophy community. Together, Alex and I explore themes of resilience, creativity, and the importance of community support for those living with myotonic dystrophy or other rare diseases. 00:00 Introduction to Art Heals All Wounds00:46 A Personal Journey with Myotonic Dystrophy02:12 Spotlight on Alexandra LeBoeuf: Art, Advocacy, and Myotonic Dystrophy02:58 The Power of Community and Creativity04:34 Alex's Creative Journey and Impact11:20 Exploring the Therapeutic Role of Art and Music20:36 Building Connections Through Creativity30:03 The Importance of Support Groups and Advocacy31:30 Conclusion and ThanksDonate for a cure for Myotonic Dystrophy!Don't forget to go to my website and leave me YOUR story of belonging to feature on a future episode!Buy Me a Coffee!Follow Alex!Reach out to Alex on FacebookFollow Me!●      My Instagram ●      My LinkedIn●      Art Heals All Wounds Website●      Art Heals All Wounds Instagram●      Art Heals All Wounds Facebook 

Join Sheila and Sara this week as they cover Osteogenesis Imperfecta and Neuromuscular Diseases (with a primary focus on DMD). We also touch on Becker MD, congenital MD, facioscapulohumeral muscular dystrophy, Myotonic dystrophy, Emery-Dreifuss MD and SMA. Please note, the content for SMA is from Campbell, but we recognize the quickly evolving presentation of that disease with the introduction of Spinraza and other medications. Please be mindful of this during the episode. Enjoy. Affiliate Codes: ------------------------------------------ Medbridge Affiliate website: https://www.medbridgeeducation.com/pushing-pediatrics Medbridge Affiliate Code: PUSHINGPEDS ----------------------------------------- Resources: Palisano, R. J., Orlin, M. N., & Schreiber, R. (2023). Campbell's physical therapy for children. Elsevier.

On University at Albany Week:  We still need to find a cure for many afflictions. Andrew Berglund, director of the RNA Institute and professor of biological sciences, details one of these. Dr. Berglund's scientific career has revolved around understanding the role of RNA in biology. The focus of his research is on neuromuscular diseases with […]

In this episode, we review the high-yield topic of Myotonic Dystrophy Type 1 ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the MSK section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets --- Send in a voice message: https://podcasters.spotify.com/pod/show/medbulletsstep1/message

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. REFERENCES 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.

Dr. Lucy Abgaryan, the co-founder and CEO of GrittGene Therapeutics, a biotech company based in Los Angeles, California, joins us to discuss how her company is working to find treatments for Myotonic Dystrophy, a rare genetic disorder that causes progressive muscle loss and weakness. Lucy also shared with us her experience in trying to find opportunities to work with the local Armenian biotech industry.

Dr. Lucy Abgaryan, the co-founder and CEO of GrittGene Therapeutics, a biotech company based in Los Angeles, California, joins us to discuss how her company is working to find treatments for Myotonic Dystrophy, a rare genetic disorder that causes progressive muscle loss and weakness. Lucy also shared with us her experience in trying to find opportunities to work with the local Armenian biotech industry. The post Dr. Lucy Abgaryan: Finding Treatments for Myotonic Dystrophy appeared first on EVN Report.

Neil shares his creative projects both of which are very personal. Honda Boy is an audio drama Neil has written in part related to his motorbike travels in younger days and dealing with family tragedy, in particular Myotonic dystrophy. And his current writing project is a Medieval Situational Comedy. A modern take on something ancient times with topics such as gender sexuality and more. Neil navigates these issues and telling a story that may not be his personal lived experience. Not to mention how to provide space for humour in this story. And as is often the case, personal relationships come into play. Writers and readers alike will find Neil's writing and intimate personal journey very interesting, as did I.

September 15th is International Myotonic Dystrophy Awareness Day. To learn more about helping educate and advocate for Myotonic Dystrophy visit the Muscular Dystrophy Association or Myotonic Dystrophy Foundation. The purpose of this Awareness Day is to garner the attention of the wider general public, policy makers, regulators, biopharmaceutical representatives, researchers, health care professionals, and anyone with an interest in changing the future of myotonic dystrophy. Raising awareness of myotonic dystrophy will help improve service provision, basic research, drug development, and policymaking related to the disease. Increased funding for myotonic dystrophy research will improve health outcomes, reduce disability, and increase life expectancy for individuals living with the disease, and holds great promise for helping individuals with diseases with similar genetic bases, such as Fragile X syndrome and Huntington's disease. To learn about the different types of myotonic dystrophy, visit this NORD webpage. In addition to this podcast host/producer who lives with Myotonic Dystrophy Type 1, the following podcast episodes have featured guests living with DM1, DM2, or caregivers in a DM family: Food = Medicine Passion and Motivation to Move through the Hard Stuff Working with Wounded Warriors Music Gives Me a Peace Bubble Salute to Caregivers Stories of Healing with Essential Oils

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Aneuploidy, Robertsonian translocation, mosaicism, prenatal screening, physical exam findings, Down's syndrome, Edward's syndrome, Patau syndrome, Klinefelter syndrome, Turner syndrome, Triple X syndrome, XYY syndrome, Cri Du Chat syndrome, Wolf-Hirschhorn syndrome, Jacobsen and Paris-Troussaeu syndromes, Charcot-Marie-Tooth syndrome, Prader-Willi and Angelman syndromes, trinucleotide repeat disorders, Fragile X syndrome, Huntington Disease, Myotonic dystrophy Type I, spinocerebellar ataxia, and Friedrich ataxia.

The guys start off the episode by discussing the career of Gilbert Gottfried and the recent documentary ‘Gilbert' (00:51).  They discuss how he often kept his private life out of the public eye, prior to the documentary. They discuss some things they did not know about him including his relationship with his wife and kids and his reputation amongst comedians as being frugal. They also chat about his roles in ‘Beverly Hills Cop 2' and as Iago in ‘Aladdin', as well as the duck from Aflac. They chat about how he was considered the ‘comic's comic' and how that reputation got him into hot water with jokes shortly after 9/11 (and  how he followed it up with ‘The Aristocrats' joke). The guys then mention how he was fired from being the Aflac duck after tweets joking about the Japanese tsunami. Then, Ali asks Asif about the disease Gilbert suffered from, myotonic dystrophy (21:16). Asif outlines first what myotonia is, and then describes the two types of myotonic dystrophy, Type 1 and the kind Gilbert suffered from, Type 2. Asif then takes an aside to discuss ventricular tachycardia, which is a known complication of myotonic dystrophy. He then describes the genetics of myotonic dystrophy and how we think the gene changes cause symptoms.  The opinions expressed are those of the hosts, and do not reflect those of any other organizations. This podcast and website represents the opinions of the hosts. The content here should not be taken as medical advice. The content here is for entertainment and informational purposes only, and because each person is so unique, please consult your healthcare professional for any medical questions.    Music courtesy of Wataboi and 8er41 from Pixabay   Contact us at doctorvcomedian@gmail.com   Follow us on Social media: Twitter: @doctorvcomedian Instagram:  doctorvcomedian   Show Notes:   ‘Gilbert' trailer: https://www.youtube.com/watch?v=03Uy88M3ymw Comedian Gilbert Gottfried died of rare, often overlooked disease: https://www.nbcnews.com/news/us-news/comedian-gilbert-gottfried-died-rare-often-overlooked-disease-rcna24129 Myotonia on EMG: The myotonic dystrophies: molecular, clinical, and therapeutic challenges: https://www.sciencedirect.com/science/article/pii/S1474442212702041?casa_token=gwoUb9Y9J3kAAAAA:fmanUIZXvjc9-nB3ZN-rqfRlvkbZQvtQS0lnO7qAqpj9iiOWiI0z53-JazyjCGW0baS3ofFgDdcJ

Gain valuable knowledge, resources, and strategies to confidently bring your baby goats into the world. For more great articles on livestock and land management, large and small farming, and even bees, go to www.Grit.com. If you're interested in workshops about everything from cheesemaking to soil health to building around your property, you can take our online classes and attend the Mother Earth News Fairs. Grit's sister publications are Mother Earth News, Backyard Poultry, and Backyard Beekeeping.

Sam chats to neurology SpR Dr Tom Minton about Myotonic dystrophy, covering every possible clinical sign whether it's a peripheral nerve examination or a cranial nerve examination.  Tom also tackles Reg Against the Machine on a topic very close to his heart....you'll have to listen to find out!    Rate us 5* rating wherever you get your podcasts! Support the show! www.buymeacoffee.com/prepacespodcast Website: www.prepacespodcast.com Twitter: @prepacespodcast   Basics of MD: 3:30 Cranial nerve exam 9:40 Peripheral nerve exam 12:50 Gold star signs: 16:45 Differential diagnosis, investigations and management 18:30   Music: Chase & Superepic by Alexander Nakarada | https://www.serpentsoundstudios.com Music promoted by https://www.free-stock-music.com Attribution 4.0 International (CC BY 4.0) https://creativecommons.org/licenses/by/4.0/

It's probably safe to say that everyone has heard of fainting goats, which are more correctly called myotonic goats, and they don't actually faint.Today we are separating fact from fiction in our conversation with Phil Sponenberg, DVM, Ph.D. of Virginia Tech who has been breeding myotonics for 30 years. He is also the technical advisor for The Livestock Conservancy, which has the myotonic goat on the "recovering" section of the Conservation Priority List, where the breed was originally considered critically endangered.Dr. Sponenberg discusses the history of the myotonic goat and what exactly is a "fainting goat." Although you can milk any goat, this breed is primarily a meat goat.If you've thought about goats but were scared off by the idea that they are loud and hard to keep fenced in, then a myotonic might be the breed for you. They are quieter than some breeds, and that same medical condition that causes them to faint also means that they can't jump or climb fences.But if you are strictly considering the myotonic because you wanted to be entertained by fainting goats, then you might want to reconsider because "fainting" really doesn't happen that often.Full show notes here -- https://thriftyhomesteader.com/fainting-goats/ To see the most recent episodes, visit  ForTheLoveOfGoats.comWant to support the content you love?Head over to -- https://thrifty-homesteader.ck.page/products/love-goats-tip-jar

In this episode, Thomas Slater discusses key points from a recent case report published in EHJ – Case Reports.

 Episode 415. Investigating myself. Topic: Myotonic dystrophy.What is myotonic dystrophy and what causes it? What are the two types? How does the disease progress? Am I at risk? How do genetic diseases like this arise?Twitter: @3minutelessonEmail: 3minutelesson@gmail.comInstagram: 3minutelessonFacebook: 3minutelessonNew episode every Monday, Wednesday, and Friday! Find us everywhere podcasts are found.Methodology notes: Repeats were evaluated with ExpansionHunter.  

Myotonic dystrophy, known as DM1, is the most common type of muscular dystrophy worldwide, and it has no effective treatment. But a Virginia college student recently became the first participant in a national trial for a drug that targets DM1 at the source; Fairfax County Public Schools has settled a lawsuit with parents and disability rights advocates over the district's use of seclusion and restraint with students with disabilities; Virginia's legislative agencies were forced to shut down computer systems and websites due to a ransomware attack; and other local news stories.

Ann S. Woodbury is an author, educator and speaker.  She is the author of Surviving Myotonic Dystrophy:  A Mother's Struggle to Care for her Family with a Rare Disease.  Ann shares her story of how she discovered that all four of her children have this rare disorder, what she does to care for them, how she has survived this ordeal and what she is doing to educate others about this disorder.  To learn more about Ann and her mission visit www.annswoodbury.com.Subscribe & Follow Side Talk & The Oh Hell No Podcasthttps://sidetalk.buzzsprout.comhttps://www.instagram.com/theohhellnopodcast/https://www.facebook.com/TheOhhellnopodcastTell us what you want to hear...fill out our questionnaire! https://forms.gle/pLHjHLtv1SkgHRpF9 

Becoming the Mom and the CaregiverWhat does it mean to step up as a mother when the unpredicted happens? Some mothers have to endure and overcome pain and ridicule from society just so they can love and protect their children. In this episode of the SpeakEasy Podcast, Altovise speaks with Ann S. Woodbury, a mother, and caregiver of her four children who have Myotonic Muscular Dystrophy. She explains how having the Myotonic Dystrophy disease in her family impacted her life and her relationship with those around her.Listen in to learn about Myotonic Dystrophy disease and how you can familiarize yourself with the condition and help stop the stigma. “My journey was figuring out what fed my core needs so that I could be what I needed to be for my family.”- Ann [11:36]What you will learn in this episode:•[1:34] Get to know Ann the mother and educator. •[2:28] Anne describes her experience as a mother of kids with Myotonic dystrophy, plus her now cause in the condition.•[7:16] Understanding the Myotonic Dystrophy disease plus how Ann handled the societal rejection that came with it.•[10:13] How to create a personal self-care formula that caters to the core needs of yourself.•[12:26] Ann on the programs she's involved in, to create awareness on the Myotonic Dystrophy disease and other cognitive diseases. Relevant Links:•Website: https://annswoodbury.com/ •Book: Surviving Myotonic Dystrophy by Ann Woodbury

Our guest this week is Emily Davey, recent RPI graduate currently working in the Berglund lab at the RNA Institute of the University of Albany. Having both a personal connection and an interest in myotonic dystrophy since middle-school, Emily discusses her journey of carrying this passion all the way into her research career both during and post-college. She also details her experience in not only being able to applied what she's learned, but also teaching it back in to both high-schoolers and post-docs alike. Want to join our team? Submit research? Join the podcast? Website link: eruditenurj.org Apply link: eruditenurj.org/apply Submit link: eruditenurj.org/submit Podcast: eruditenurj.org/podcast Give us a like and follow on our social media: @EruditeNURJ on Facebook, Twitter, Instagram and LinkedIn

Myotonic dystrophy (DM) is a musculoskeletal disorder that affects the muscles and a number of different organs in the body. Let’s learn more!!

Myotonic dystrophy type 1 is a debilitating genetic disease that causes muscle weakness and wasting, amongst other problems, and there's currently no cure. It causes a toxic form of the chemical RNA - a genetic messenger molecule similar to DNA - to build up and clog up other important processes inside cells. Now, scientists at the University of California San Diego have used gene editing to reverse the disease in mice, as Eva Higginbotham heard from Gene Yeo... Like this podcast? Please help us by supporting the Naked Scientists

Myotonic dystrophy type 1 is a debilitating genetic disease that causes muscle weakness and wasting, amongst other problems, and there's currently no cure. It causes a toxic form of the chemical RNA - a genetic messenger molecule similar to DNA - to build up and clog up other important processes inside cells. Now, scientists at the University of California San Diego have used gene editing to reverse the disease in mice, as Eva Higginbotham heard from Gene Yeo... Like this podcast? Please help us by supporting the Naked Scientists

Sometime last year, Eric Hutchinson came to a strange realization: he kept daydreaming about high-school. It had been over twenty years since the singer-songwriter had graduated from Montgomery Blair High School, yet his adolescent dreams, hopes, fears, anxieties and emotions the singer faced as a kid began flooding back; suddenly, the singer felt transported back into his teenage self. Growing up in suburban Maryland, Hutchinson’s teenage years were filled with the type of alienation and private angst recognizable to most anyone who’s ever been 16. Twenty-plus years later, the singer was finally ready to write about it. The result: Class of 98, a 90’s alt-rock-inspired autobiographical record that chronicles the singer-songwriter’s adolescence.“It took me a long time to understand myself,” Hutchinson says. “Writing this record allowed me to get into the time machine and go back and look around my old life and report from my current point of view. That was fun. The problems were waiting for me: Who likes me? Why doesn’t this person want to be around me? Why don’t I understand myself?”After experimenting with a series of genres like Americana/soul and jazz on his last few albums ModernHappiness and Before and After Life, the singer-songwriter turned to the pop-punk alt-rock of his youth for the riff-heavy Class of 98, taking inspiration from bands like Green Day, Oasis, and Weezer. “That music is in my guitar DNA,” says the singer. “I love 90’s music, and this type of sound was so formative for me.” To help round out his sound, Hutchinson recruited Justin Sharbono (formerly of Soul Asylum) to offer his distinctive (and period appropriate) guitar playing on the album. Hutchinson also enlisted the sonic guidance and mixing talents of Paul Kolderie, who’d made great 90’s records with bands like Radiohead, Hole, The Lemonheads, Buffalo Tom and The Pixies. For Hutchinson, taking such an imaginative leap with a concept as specifically personal of Class of 98was an artistic risk he knew he needed to take. “I don’t think people want me to keep making the same record, as much as anyone might think they do,” he says. The opening track “Rock Out Tonight” sets the scene with a narrative that evokes the high-drama restlessness of a group of teenagers aimlessly driving around the suburbs in a Ford Taurus. The song, says the singer, is about “wanting to be rebellious, but having no idea how to do so.”Meanwhile, cinematic songs like “Drunk at Lunch” and “Cooler Than You” show a darker underbelly of Hutchinson’s high-school introversion, echoing a theme that the singer-songwriter has been tackling in his work ever since releasing his chart-topping debut LP Sounds Like This, in 2007. “I’m always interested in asking questions in my songs: who’s cool, who gets to decide, and where do I fit into all of that?” he says. But the emotional centerpiece of Hutchinson’s latest, and the song that was the most difficult to write, is “My Old Man,” written in the wake of his father’s passing, after years of living with Myotonic dystrophy. More than anything else on the album, the deeply personal song gets at the album’s central tension of writing from the teenage perspective while simultaneously embodying the adult point of view. “I didn’t necessarily get along with my dad in high school,” says the singer. “We were in different places in our lives and he had different things to worry about. I tried to sing this song from my perspective back then as well as my perspective now, where I’ve made peace with him.”Taken as a whole, Class of 98arrives as Hutchinson’s most playful yet distinctive work, one that will surely resonate with longtime fans of the singer’s pop-rock hits like “Rock & Roll,” “Tell the World,” and “Watching You Watch Him.”For Hutchinson, the experience of delving back into his high-school youth helped him learn a lot: about his upbringing, about parenthood, and about himself. “I like the 90’s way better,” he says, “when I’m not living in them.”

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.07.17.208132v1?rss=1 Authors: Jimenez-Marin, A., Diez, I., Labayru, G., Sistiaga, A., Sepulcre, J., Lopez de Munain, A., Cortes, J. M. Abstract: Despite significant research, the biological mechanisms underlying the brain degeneration in Myotonic Dystrophy Type I (DM1) remain largely unknown. Here we have assessed brain degeneration by measuring the volume loss (VL) and cognitive deficits (CD) in two cohorts of DM1 patients, and associating them to the large-scale brain transcriptome maps provided by the Allen Human Brain Atlas (AHBA). From a list of preselected hypothesis-driven genes, three of them appear to play a major role in degeneration: dystrophin (DMD), alpha-synuclein (SNCA) and the microtubule-associated protein tau (MAPT). Moreover, a purely data-driven strategy identified gene clusters enriched for key biological processes in the central nervous system, such as synaptic vesicle recycling, localization, endocytosis and exocytosis, and the serotonin and dopamine neurotransmitter pathways. Therefore, by combining large-scale transcriptome interactions with brain imaging and cognitive function, we provide a new more comprehensive understanding of DM1 that might help define future therapeutic strategies and research into this condition. Copy rights belong to original authors. Visit the link for more info

Abraham Lincoln's Gettysburg Address from November 1863 was a document that outlined Lincoln's attempt to unify the country in a time of war.  It might feel a little like that right now, during the time of the Covid-19 pandemic, where we are discovering that we can work together, or not.  As in the time of Lincoln, people are fighting a brave fight, and some are perishing.We often look to our governments to protect the public good, organize things and help us stay safe.  That's especially true now, from what we hear on the news.  Sometimes it's a discussion about the positives, sometimes the negatives, because there can often be a tendency for any large organization to degrade into a bureaucratic quagmire.  But it's not always like that, because governments are made of people.Today, we bring you Julie Gauthier, DVM, one of the many people we have interviewed who works for, partners with, consults with, or provides expertise to the government body we know as the United States Department of Agriculture, or USDA.  Julie is a veterinary epidemiologist and co-author of “Chicken Health for Dummies,” and is the go-to expert on poultry, especially rare breeds.  She gave us a tour of her North Carolina farm, including a great opportunity to see and film the Myotonic or “Tennessee Fainting” goat (Elara got up close and personal, but did not ask them to faint).  Want a full-sized turkey that actually fits in a little 1940's refrigerator?  She'll tell you about the Beltsville Small White, a heritage breed turkey developed by the USDA for just this purpose.  Today's monster fridge in most American kitchens has evolved from its tiny origin, and the USDA's scientists keep moving along with our current needs, developing new breeds for our new lifestyles.  Good and bad, we're all in this together.  That includes the USDA and the wonderfully gracious people we have met that are connected with that big government branch.  Because while we're all familiar with the phrase, “…of the people, for the people,” we'd like to add another part in there, with regard to the USDA.  “Made up of working people…just like us.”Links:https://www.nass.usda.gov/ https://en.wikipedia.org/wiki/Beltsville_Small_White https://en.wikipedia.org/wiki/Fainting_goat https://en.wikipedia.org/wiki/United_States_Department_of_Agriculture https://www.pastemagazine.com/business/almond-industry/the-billion-dollar-california-almond-industrys-blo/ https://www.fsis.usda.gov/wps/portal/fsis/topics/food-safety-education/get-answers/food-safety-fact-sheets/production-and-inspection/inspection-and-grading-of-meat-and-poultry-what-are-the-differences_/inspection-and-grading-differences https://www.producereport.com/article/new-mexico-now-top-us-pecan-producer https://www.grandin.com/ https://www.ars.usda.gov/people-locations/person/?person-id=479 https://www.ars.usdaSupport the show (https://www.patreon.com/agriCulturePodcast)

Being diagnosed with a chronic, debilitating disease can certainly bring stress to one's life. In fact, that stress can be significant enough to be called trauma. How one handles this stress varies. Some people have amazing coping capacity and are hard-wired for resilience while others have more difficulty. None of it is easy. How one handles this stress varies. Some people have amazing coping capacity and are hard-wired for resilience while others have more difficulty. None of it is easy. Mary Holt, a Registered Nurse with a Master's Degree in Counseling Psychology, shares her journey of loss and recovery and the profound impact a mindfulness meditation practice has had on her life and work. She brings this practice to the clinics where she helps patients and their families with neuromuscular and Parkinson's disease.

Dr. Nicholas Johnson discusses myotonic muscular dystrophies in the fourth part of this four-part series. To learn more, read the article "Myotonic Muscular Dystrophies" by Dr. Johnson in the December 2019 Muscle and Neuromuscular Junction Disorders issue of Continuum, which is open to all until March 1, 2020, at continpub.com/MuscDys.  

Dr. Nicholas Johnson discusses myotonic muscular dystrophies in the third part of this four-part series. To learn more, read the article "Myotonic Muscular Dystrophies" by Dr. Johnson in the December 2019 Muscle and Neuromuscular Junction Disorders issue of Continuum, which is open to all until March 1, 2020, at continpub.com/MuscDys.  

Dr. Nicholas Johnson discusses myotonic muscular dystrophies in the second part of this four-part series. To learn more, read the article "Myotonic Muscular Dystrophies" by Dr. Johnson in the December 2019 Muscle and Neuromuscular Junction Disorders issue of Continuum, which is open to all until March 1, 2020, at continpub.com/MuscDys.  

Dr. Nicholas Johnson discusses myotonic muscular dystrophies in the first part of a three-part series. To learn more, read the article "Myotonic Muscular Dystrophies" by Dr. Johnson in the December 2019 Muscle and Neuromuscular Junction Disorders issue of Continuum,which is open to all until March 1, 2020 at continpub.com/MuscDys.  

Registered Nurse and proud septuagenarian, Barbara Blaser, was the guest speaker at my Northern California myotonic dystrophy support group. With her healthcare background and deep knowledge of medicinal herbs, she spoke about the use of herbal tinctures, edibles, and lotions to help relieve muscle pain, anxiety, insomnia, gastrointestinal problems, and more. Barbara's nursing career was predominantly in the mental health field. But at some point in her 60s she had an esophagectomy and due to complications, she developed septicemia. She turned to natural herbal healing to help her pain, anxiety, and GI problems. Handouts that Barbara provided at the support group meeting are culled from this website.

Two friends from grade school share their stories of a diagnosis of a neurological condition. Marc has Multiple Sclerosis and Steve has Parkinson's disease. I have a form of muscular dystrophy called myotonic dystrophy. It's purely coincidental we all went to the same synagogue; there is no correlation between being Jewish and having a neurological condition. Both Marc and Steve maintain positive attitudes. Marc has educated himself thoroughly about MS. Steve has tried different exercise programs customized for people with Parkinson's and now facilitates a support group.

Practicing Pilates can be done on a mat or with any number of devices such as the Reformer. Shannon Knorr, a yoga and Pilates instructor, talks about therapeutic Pilates to help with body alignment, pain relief, and more. Julia Carver, a Pilates and Movement Therapist, works with veterans who have experienced PTSD and other trauma to help them with neural reconnection. For people with muscle weakening conditions, like muscular dystrophy, Pilates can help strengthen core muscles.

If you have a physical or mental health condition that has altered the way you look or behave, it may scare people. Have you had friends or family members change how they interact with you or perhaps distance themselves? A recent incident with an old friend got me thinking about this topic. In the Glass Half Full Facebook group some have shared their stories. I invite you to share your experiences either in Facebook or in the podcast notes on the Glass Half Full website.

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 to myotonia and the conditions that are associated with it. IF YOU'RE TAKING YOUR NEUROLOGY BOARDS, and not sure how to prepare, check out the 2019 Penn Neurology Board Review Course here [or here: https://upenn.cloud-cme.com/default.aspx?P=5&EID=54399]. BrainWaves' listeners get $150 off their enrollment fee using the promo code 'WAVES2019'. 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. REFERENCES Miller TM. Differential diagnosis of myotonic disorders. Muscle Nerve. 2008;37:293-9. Sansone VA. The Dystrophic and Nondystrophic Myotonias. Continuum (Minneap Minn). 2016;22:1889-1915. Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM and consortium O. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. The Lancet Neurology. 2018;17:671-680. Thornton CA, Wang E and Carrell EM. Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev. 2017;44:135-140.

February 28 is International Rare Disease Day. There are over 6,000 rare diseases or disorders with 80% having genetic origins. Global events are planned to draw attention to the need for medical research. This brief, light-hearted podcast episode shares a few less critical aspects to having a rare disease. For a deeper dive, check out last year’s Rare Disease podcast episode. Make sure you become a Subscriber to our YouTube channel. All subscribers are entered into Glass Half Full give-aways. Picture yourself sipping your favorite warm beverage…

An echocardiogram technician told me I have a beautiful heart and that got me going. What makes for good heart health? What role do genetics, lifestyle, and environment play? Dr. Erica Pitsch talks about the Framingham Heart Study, John talks about congestive heart failure and Mended Hearts, and Saurabh shares how yoga and meditation help his stress level and coping with myotonic muscular dystrophy. 

Holidays can be tough; that's why we're focusing on our favorite things. Peni, Laurel, and Kristl share their voices and 22 previous podcast guests tell us how they beat the funk when dogs bite or bees sting. Since this is the shortest podcast episode ever...check out these previous episodes all about optimism: Passion: Motivation to move through the bad stuff and experience joy Skydiving, Triathaloning, and Mountain Climbing New Year's Resolutions: You must do the things you think you cannot do Music gives me a peace bubble

Today we have the pleasure of speaking with Leslie Krongold who was diagnosed as an adult with Myotonic dystrophy. Symptoms of this condition usually include muscle weakness in the face, hands, or legs. In severe cases people may also experience respiratory muscle weakness, abnormal heartbeat, or muscle pain.  Leslie is a podcaster as well, you can find her at http://glasshalffull.online

Myotonic Dystrophy Health Index: Initial Evaluation of a Disease-Specific Outcome Measure

Myotonic Dystrophy Health Index: Initial Evaluation of a Disease-Specific Outcome Measure by Dr. Chad Heatwole and interviewed by Dr. Nicholas Silvestri. From the Muscle and Nerve article: INTRODUCTION: In preparation for clinical trials we examine the validity, reliability, and patient understanding of the Myotonic Dystrophy Health Index (MDHI). METHODS: Initially we partnered with 278 myotonic dystrophy type-1 (DM1) patients and identified the most relevant questions for the MDHI. Next, we used factor analysis, patient interviews, and test-retest reliability assessments to refine and evaluate the instrument. Lastly, we determined the capability of the MDHI to differentiate between known groups of DM1 participants. RESULTS: Questions in the final MDHI represent 17 areas of DM1 health. The internal consistency was acceptable in all subscales. The MDHI had a high test-retest reliability (ICC = 0.95) and differentiated between DM1 patient groups with different disease severities. CONCLUSIONS: Initial evaluation of the MDHI provides evidence that it is valid and reliable as an outcome measure for assessing patient-reported health. These results suggest that important aspects of DM1 health may be measured effectively using the MDHI. Muscle Nerve. 2014 Jun;49(6):906-14. doi: 10.1002/mus.24097.

Myotonic Dystrophy Health Index: Initial Evaluation of a Disease-Specific Outcome Measure by Dr. Chad Heatwole and interviewed by Dr. Nicholas Silvestri. From the Muscle and Nerve article: INTRODUCTION: In preparation for clinical trials we examine the validity, reliability, and patient understanding of the Myotonic Dystrophy Health Index (MDHI). METHODS: Initially we partnered with 278 myotonic dystrophy type-1 (DM1) patients and identified the most relevant questions for the MDHI. Next, we used factor analysis, patient interviews, and test-retest reliability assessments to refine and evaluate the instrument. Lastly, we determined the capability of the MDHI to differentiate between known groups of DM1 participants. RESULTS: Questions in the final MDHI represent 17 areas of DM1 health. The internal consistency was acceptable in all subscales. The MDHI had a high test-retest reliability (ICC = 0.95) and differentiated between DM1 patient groups with different disease severities. CONCLUSIONS: Initial evaluation of the MDHI provides evidence that it is valid and reliable as an outcome measure for assessing patient-reported health. These results suggest that important aspects of DM1 health may be measured effectively using the MDHI. Muscle Nerve. 2014 Jun;49(6):906-14. doi: 10.1002/mus.24097.

Beatriz Llamusí Troisi, Dpto. Genetica, Facultad de Biología Universidad de Valencia, Burjassot Valencia, SPAIN speaks on "TBPH involvement in Myotonic Dystrophy 1". This seminar has been recorded by ICGEB Trieste

Beatriz Llamusí Troisi, Dpto. Genetica, Facultad de Biología Universidad de Valencia, Burjassot Valencia, SPAIN speaks on "TBPH involvement in Myotonic Dystrophy 1". This seminar has been recorded by ICGEB Trieste