Neurological impairment of voluntary muscle movement
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What happens when a teenager asks, “Why are you in a wheelchair?” at the bar... and it's not weird at all? In this episode, Sean and Kyle reflect on what it means to be curious, considerate, and occasionally oblivious when it comes to disability—and why teens might just be winning in the empathy department. From cruise ship conversations to elevator etiquette, we explore how age, culture, and confidence shape the way people react (or don't react) to disability.Then we catch up with our good friend Matt Lafleur—writer, rare disease advocate, and now children's book author! Matt shares how he turned a lonely diagnosis into a meaningful calling, why vulnerability is hard but necessary, and how a red panda named Professor Hong is helping kids understand life with Friedreich's Ataxia. Whether you're in the tunnel or finally seeing the light, this episode is packed with honesty, encouragement, and a few laughs about mystery garbage collectors.Links & ResourcesMatt's Childrens BookMatt's NYT ArticleMatt's ColumnWhat Do You Do With An Idea?
La fundación ALMAR trabaja para conseguir investigación y apoyar a las personas con ataxia de friedreich y sus familias en este proceso. Pilar su fundadora y Marta, su hija con ataxia, nos cuentan como nació la fundación y como es vivir con esta enfermedad en primera mano.
La historia de Hugo, y de su papa Juan, y la lucha titánica de ambos por dar visibilidad a la ataxia de Friedrich que padece el pequeño y cuyo único tratamiento no termina de llegar a España. También hablaremos con Pilar Mejías, presidenta de la asociación Almar, dedicada a acompañar a las familias que se enfrentan con sus pequeños a esta enfermedad rara con consecuencias terribles para el desarrollo de los niños.
Art's journey with Ataxia began in 2022 when he was diagnosed and faced a grim prognosis of being confined to a wheelchair with a progressive decline in his condition. Despite these challenges, Art has defied expectations through his tireless determination, innovative treatments, and lifestyle changes. By adopting a carnivore diet, undergoing stem cell therapy in Mexico, and maintaining a rigorous strength training regimen, he transitioned from relying on a wheelchair to walking independently. Art's remarkable progress has not only transformed his life but has also inspired others with Ataxia and similar neurological disorders to pursue alternative paths toward recovery. As an advocate for awareness and change, Art has encountered resistance from organizations like the National Ataxia Foundation (NAF), which he believes are influenced by pharmaceutical interests. While the NAF acknowledges his determination and the benefits of his approach, they have discouraged him from sharing his experiences with stem cell therapy in their groups. Art remains steadfast in his mission to promote holistic and transformative strategies for managing neurological disabilities. He emphasizes the critical role of motivation, proper diet, and unconventional treatments in overcoming these challenges, urging the medical community to support and explore what works instead of adhering solely to traditional frameworks. Instagram: https://www.instagram.com/living_with_ataxia Twitter: https://x.com/LivingWitAtaxia YouTube: https://www.youtube.com/@Living_With_Ataxia Other: https://www.linkedin.com/in/livingwithataxia/ Website: https://livingwithataxia.vids.io/ Timestamps: 00:00 Trailer 01:23 Introduction 05:26 Undiagnosed stroke and ataxia 10:19 Stroke recovery journey highlights 12:43 Quick adaptation pre-diet progress 17:28 Challenging conventional neurological treatment 18:48 Challenging sedentary mindsets in medicine 22:07 Red meat eases leg cramps 27:49 Carnivore diet and cognitive boost 29:24 Speech restrictions and free speech concerns 34:15 Carnivore diet eases joint pain 37:06 Exercise for everyone's well-being 39:13 Unexpected diagnosis journey 44:13 Diet adherence difficulty comparison 47:15 Stroke recovery and rehabilitation insight 49:55 Reluctant diet advice shift 52:00 Where to find Art Join Revero now to regain your health: https://revero.com/YT Revero.com is an online medical clinic for treating chronic diseases with this root-cause approach of nutrition therapy. You can get access to medical providers, personalized nutrition therapy, biomarker tracking, lab testing, ongoing clinical care, and daily coaching. You will also learn everything you need with educational videos, hundreds of recipes, and articles to make this easy for you. Join the Revero team (medical providers, etc): https://revero.com/jobs #Revero #ReveroHealth #shawnbaker #Carnivorediet #MeatHeals #AnimalBased #ZeroCarb #DietCoach #FatAdapted #Carnivore #sugarfree Disclaimer: The content on this channel is not medical advice. Please consult your healthcare provider.
In this episode, we review the high-yield topic ofFriedreich Ataxia from the Neurology section.FollowMedbullets on social media:Facebook: www.facebook.com/medbulletsInstagram: www.instagram.com/medbulletsofficialTwitter: www.twitter.com/medbullets
Enjoy our discussion of Ataxia's Automatic Discussion!
The Diamond Awards were the backdrop to raise money for important research for diseases like Ataxia.
The Diamond Awards were the backdrop to raise money for important research for diseases like Ataxia.
Marc Allison, the son of Twins Great, Bob Allison, is one of the brains behind this event. He joined Vineeta on The WCCO Morning News.
Marc Allison, the son of Twins Great, Bob Allison, is one of the brains behind this event. He joined Vineeta on The WCCO Morning News.
Comenzamos la segunda hora de Poniendo las Calles con una historia positiva de superación. Marta Ameneiro es una chica de 20 años diagnosticada desde los 12 años con una enfermedad llamada Ataxia. Su historia es digna de oir y de contar. Una niña que desde bien pequeña empezó a tener problemas de equilibrio y, 8 años después, y con la ayuda de sus padres, ha sabido afrontar este reto y seguir adelante.
Dr. Martin answers questions sent in by our listeners. Some of today's topics include: Allergy testing Post vitreous detachment Hair thinning due to psoriasis Fibromyalgia & selenium Ataxia & supplements Astaxanthin History of Martin Clinic Cold cuts & oxalates Cheese as a hormone disruptor Aloe vera
As rehab professionals, we often face unique challenges when working with patients who have ataxia. In today's episode Claire McLean, PT, DPT, NCS, J.J. Mowder-Tinney, PT, PhD, NCS and Erin Gallardo, PT, DPT, NCS have a group discussion about working with people with it. One of the primary challenges is that often there can be slow progress. This can be exacerbated by the diverse underlying causes and presentations of ataxia, making it difficult to develop standardized treatment approaches. In today's show we'll discuss a couple of main points the research emphasizes to incorporate in your treatments for people with ataxia. We'll discuss the question of how to divide up your time in the session, how to uncover what their true capabilities are, and how to balance care partner training into sessions. Some treatment examples include incorporating sensory input, start-stop techniques, resistance training, whole task versus part task training, ocular motor training and visual tracking exercises to address the challenges patients face with balance and stability. Join us for a free webinar on working with patients with Ataxia on Jan 28, 2025! Register here: Navigating Ataxia Treatment: Practical Tools for PTs and OTs
"You don't have to be this perfect specimen in order to have value," says Jennifer Gasner, a true force of reinvention. Diagnosed at 17 with Friedrich's Ataxia, a rare neuromuscular disease, Jennifer has turned challenges into triumphs—with humor, resilience, and a passion for advocacy. Now an Amazon bestselling author, she shares how she found joy and balance beyond her diagnosis. Her memoir, My Unexpected Finding Balance Beyond My Diagnosis, offers profound lessons in adaptability and mindset. Tune in to discover how Gasner's journey can inspire your own reinvention and remind you that possibility thrives even in adversity. Bio At seventeen, Jennifer Gasner was diagnosed with Friedreich's Ataxia, a rare neuromuscular disease, but her determination and humor helped her navigate life's challenges, from using a walker to a wheelchair. She earned a BA in English from the University of Wisconsin-Platteville and an MS in Recreation from Western Illinois University, where she cultivated a love for music and student engagement. Her career includes advocating for disability rights with Wisconsin's Independent Living Centers, mentoring youth, and co-chairing UC San Diego's disability staff association. As a Friedreich's Ataxia Research Alliance Ambassador, she raises awareness and champions rare disease legislation. Honored by the International Memoir Writers Association, Jennifer's work, including her published story Diagnosis, reflects her passion for writing as she crafts a coming-of-age memoir, Walking is Overrated. Living in San Diego with her boyfriend Gregory and their two dogs, Wyatt and Ki, she enjoys yoga, movies, and travel. Links Website Facebook LinkedIn FREE GIFT! 31 Badass Tips for Launching Your Reinvention Connect with Lesley Jane Seymour & CoveyClub: Website Instagram LinkedIn Join CoveyClub If you found this episode insightful, please follow the podcast and leave a review on Apple Podcasts. For more resources and community support, join us at CoveyClub.com. Until next time, keep reinventing!
La Ataxia de Friedreich es una enfermedad rara, por definición, al afecta aproximadamente a 1 de cada 50.000 personas, que está causada por la mutacion de un gen concreto, el gen FXN, que produce la frataxina. Los problemas derivados de la Ataxia de Friedreich son sobre todo por la afectación del sistema nervioso y los musculos, causando problemas de coorinacion, equilibrio y debilidad muscular y, actualmente, aunque la progresión de la enfermedad es lenta, hoy en día no hay cura, llevando a una perdida significativa de la movilidad y habitualmente a obligar a usar silla de ruedas. Esta enfermedad también puede afectar a otras cuestiones como el corazón, la vista o la audición. Para entender la Ataxia de Friedreich desde primera persona tenemos con nosotros a Marta Ameneiro, una chica de 2 1 años con la enfermedad y que divulga sobre ello. Hablaremos de aspectos como el modo en que se presenta en ella, cómo fue su proceso diagnóstico, qué le supuso o tratamientos innovadores y ensayos que hay actualmente. Escuchar a Marta es todo un gusto, hacedme caso.
La Ataxia de Friedreich es una enfermedad rara, por definición, al afecta aproximadamente a 1 de cada 50.000 personas, que está causada por la mutacion de un gen concreto, el gen FXN, que produce la frataxina. Los problemas derivados de la Ataxia de Friedreich son sobre todo por la afectación del sistema nervioso y los musculos, causando problemas de coorinacion, equilibrio y debilidad muscular y, actualmente, aunque la progresión de la enfermedad es lenta, hoy en día no hay cura, llevando a una perdida significativa de la movilidad y habitualmente a obligar a usar silla de ruedas. Esta enfermedad también puede afectar a otras cuestiones como el corazón, la vista o la audición. Para entender la Ataxia de Friedreich desde primera persona tenemos con nosotros a Marta Ameneiro, una chica de 2 1 años con la enfermedad y que divulga sobre ello. Hablaremos de aspectos como el modo en que se presenta en ella, cómo fue su proceso diagnóstico, qué le supuso o tratamientos innovadores y ensayos que hay actualmente. Escuchar a Marta es todo un gusto, hacedme caso. REDES: Twitter: @entiendetusalud Instagram: @entiendetusalud TikTok: @entiendetusalud Email: hola@entiendetusalud.com Youtube: Entiende tu Salud
Dr. Vikram Karnak discusses the novel hereditary ataxia SCA27b, its genetic basis, symptoms, and potential treatments, emphasizing the need for testing in unexplained adult-onset ataxia.
Looking ahead to Trump's transition into the White House; Investigating roadside zoos; New travel rules; The NFL pushes back against interviews in locker rooms; Bill Nye raising awareness on Ataxia; Coping with the loneliness epidemic; Remembering music legend Quincy Jones. Learn more about your ad choices. Visit podcastchoices.com/adchoices
Looking ahead to Trump's transition into the White House; Investigating roadside zoos; New travel rules; The NFL pushes back against interviews in locker rooms; Bill Nye raising awareness on Ataxia; Coping with the loneliness epidemic; Remembering music legend Quincy Jones. Learn more about your ad choices. Visit podcastchoices.com/adchoices
Roger Foley is a remarkable individual whose story is defined by extraordinary resilience and a relentless fight for justice. Based in London, Ontario, Roger has faced severe challenges due to a debilitating neurodegenerative disease called Spino-cerebellar Ataxia and other health issues that have significantly impacted his mobility and independence. Despite these difficulties, Roger remains a beacon of courage and advocacy. Roger is a graduate of Carleton University with degrees in Economics and History. He has previously served as a National E-Business Manager with the Royal Bank of Canada and is the founder of the Canadian Ataxia Conference. Roger is also a singer and song writer. His dedication to community service was recognized in 2013 when he received a top volunteer award from the Prime Minister's Volunteer Awards, underscoring his commitment to making a positive impact. Support Roger Foley's fight for justice by donating to his legal fund. Every contribution, no matter the size, is a crucial step towards ensuring that his voice is heard and his rights are protected. Visit www.HelpRoger.ca to make a donation and show Roger that thousands of Canadians stand with him in his struggle for fairness and dignity. Roger Foley's story is a testament to his strength and an urgent call for systemic change. His unwavering determination to seek justice and proper care highlights the critical need for support and reform in the treatment of individuals with disabilities. By standing with Roger, we uphold the values of respect, dignity, and humanity that should define our healthcare system. Substack: https://substack.com/@kelsisheren Watch on YouTube: https://bit.ly/3opNURn - - - - - - - - - - - - SUPPORT OUR SPONSORS - - - - - - - - - - - - COLDTURE - Code: KELSI - https://coldture.com H.V.M.N - 20% off with code BRASS20 - https://hvmn.com/products/ketone Mindful Meds - 15% off with code BRASS - https://mindfulmeds.io Brass & Unity - 20% off with code UNITY - http://brassandunity.com Three Horses Hat Co - 15% off with code BRASS - https://threehorseshatco.com/ - - - - - - - - - - - - - SHOP B&U Jewelry & Eyewear: https://brassandunity.com - - - - - - - - - - - - - Follow #thekelsisherenperspective - - - - - - - - - - - - - CHARITY Honour House - https://www.honourhouse.ca Heroic Hearts - https://www.heroicheartsproject.org Warrior Angels Foundation - https://warriorangelsfoundation.org All Secure Foundation - http://allsecurefoundation.org Defenders of Freedom -https://www.defendersoffreedom.us The Boot Campaign - https://bootcampaign.org
In this episode of the Brain & Life podcast, co-host Dr. Katy Peters is joined by Christina Coates, president and founding member of an organization called Hypertrophic Olivary Degeneration Association (HODA). Christina shares about her own journey with hypertrophic olivary degeneration and how she was inspired to found HODA and build an advocacy community. Dr. Peters is then joined by Dr. Vikram Shakkottai, professor of neurology at UT Southwestern Medical Center in Dallas, Texas and Dedman Family Distinguished Chair in Neurologic Disease. Dr. Shakkottai discusses cerebellar ataxia, hypertrophic olivary degeneration, how these disorders are treated, and what upcoming research there is to look forward to. We invite you to participate in our listener survey! By participating in the brief survey, you will have the opportunity to enter your name and email address for a chance to win one of five $100 Amazon gift cards. Additional Resources HODA - Working to make HOD History Forming a Foundation Bolsters Hope After a Rare Diagnosis Advice for Caregivers of People with Rare Diseases What is ataxia and cerebellar or spinocerebellar degeneration? Other Brain & Life Episodes on this Topic Neurofibromatosis Advocacy and Community Building with the Gilbert Family Foundation Making a Lasting Impact with The Brain Donor Project's Tish Hevel We Are Brave Together with Jessica Patay Strength in Unity: Advocating and Advancing Research for Brain Tumors We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? · Record a voicemail at 612-928-6206 · Email us at BLpodcast@brainandlife.org Social Media: Guests: Christina Coates @hodassoc; Dr. Vikram Shakkottai @utswmedcenter Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD
Roger Foley is a remarkable individual whose story is defined by extraordinary resilience and a relentless fight for justice. Based in London, Ontario, Roger has faced severe challenges due to a debilitating neurodegenerative disease called Spino-cerebellar Ataxia and other health issues that have significantly impacted his mobility and independence. Despite these difficulties, Roger remains a beacon of courage and advocacy. Roger is a graduate of Carleton University with degrees in Economics and History. He has previously served as a National E-Business Manager with the Royal Bank of Canada and is the founder of the Canadian Ataxia Conference. Roger is also a singer and song writer. His dedication to community service was recognized in 2013 when he received a top volunteer award from the Prime Minister's Volunteer Awards, underscoring his commitment to making a positive impact. Support Roger Foley's fight for justice by donating to his legal fund. Every contribution, no matter the size, is a crucial step towards ensuring that his voice is heard and his rights are protected. Visit www.HelpRoger.ca to make a donation and show Roger that thousands of Canadians stand with him in his struggle for fairness and dignity. Roger Foley's story is a testament to his strength and an urgent call for systemic change. His unwavering determination to seek justice and proper care highlights the critical need for support and reform in the treatment of individuals with disabilities. By standing with Roger, we uphold the values of respect, dignity, and humanity that should define our healthcare system.
In this episode we discuss research on patient and family experiences in neurogenetics. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website. Segment 1: “Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis” Connolly Steigerwald is a certified genetic counselor at NYU Langone Health's Division of Neurogenetics and Lysosomal Storage Disorders Program in NYC, where she assists in providing evaluations and genetic counseling for those with suspected or confirmed neurogenetic disorders. Her clinic population includes those with neurodevelopmental disabilities, epilepsies, neuromuscular disorders, dementias, white matter disorders, movement disorders, and lysosomal storage disorders. Connolly holds a Master of Science in Genetic Counseling from Columbia University, where she completed a specialty rotation in neurology with a focus on neurodegenerative and neuromuscular disorders such as amyotrophic lateral sclerosis. Her research interests include predictive genetic testing, lysosomal storage disorders, and implementation of genetic counselor led clinic models. Elizabeth Harrington, MS, CGC, is an ABGC board-certified genetic counselor and Lecturer in the department of Neurology at Columbia University. Ms. Harrington received her graduate degree in human genetics and genetic counseling from the Stanford University School of Medicine. Ms. Harrington provides genetic counseling expertise in neuromuscular, neurodegenerative, and motor neuron diseases, and specifically provides clinical genetic counseling to patients and families with ALS. In addition to her clinical and academic responsibilities, Ms. Harrington directs the ALS Families Project research study, a presymptomatic natural history study designed to understand the genetic underpinnings of genetic forms of ALS and the impact on affected families. Link to the ALS Families Project: https://clinicaltrials.gov/study/NCT03865420 In this segment we discuss: How the experiences and decision-making processes for ALS risk compare to other neurodegenerative disorders, such as Huntington disease (HD). What influences individuals at risk for familial ALS/FTD to choose predictive genetic testing, including factors like religious affiliation. The psychological impact of testing positive for ALS-associated mutations is compared to those who test negative or opt out of testing, revealing significant emotional differences. Social support networks, whether from family, friends, or healthcare professionals, are critical for those processing genetic test results or managing their risk for ALS/FTD. The importance of integrating psychological care into the predictive genetic testing process to support individuals facing the risk of neurodegenerative diseases. Segment 2: “How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty” Victoria Suslovitch (Tori) is a genetic counselor and works as a genomic science liaison for the rare disease team at Ambry Genetics. She educates healthcare providers about genetic testing and genomic medicine, and aims to advance access, equity, and quality of genetics services. Prior, Victoria was a research genetic counselor at Boston Children's Hospital, for a study that develops genomically targeted therapies for children with rare neurological diseases. In this role, she worked closely with families of patients with ataxia telangiectasia. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling. Julia Schiller works as a cancer genetic counselor at AdventHealth in Parker, CO. She attended Drake University for her undergraduate degree, and Boston University School of Medicine for her genetic counseling degree and is certified by the American Board of Genetic Counseling. Originally from Minnesota, she now enjoys all the outdoor adventures Colorado has to offer with her partner, Adam, and their dog, Sprocket. Her passionate for health equity and preventative care drive her to create a space for patients where they feel empowered in their own healthcare. Link to the Ataxia Telangiectasia Children's Project (ATCP): https://atcp.org In this segment we discuss: Ataxia-Telangiectasia (A-T) - a pediatric movement disorder characterized by ataxia, immune deficiencies, and a higher risk of cancer, with symptoms often starting in early childhood. The similarities and differences in parental experiences as well as emotional and clinical challenges faced by families The five key themes that emerged: changes in parental responsibilities, shifts in family identity, evolving coping strategies, continuous uncertainty, and the importance of support from various sources. A-T's progressive nature meant that coping and identity changes were ongoing, with parents turning to connections with family, medical teams, and other A-T families. Parents described emotional, logistical, and financial challenges associated with the diagnosis, highlighting the need for supportive and understanding healthcare providers. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”. For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com. DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson, and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.
In this week's episode we'll discuss how CD8+ T-cell differentiation and dysfunction inform treatment response in acute myeloid leukemia; learn more about the effect of ATM germline pathogenic variants on the outcomes in children with ataxia-telangiectasia and hematological malignancies; and discuss the preclinical efficacy of a potent, selective menin-KMT2A inhibitor JNJ-75276617 in KMT2A- and NPM1-altered leukemias.Featured Articles:CD8+ T-cell differentiation and dysfunction inform treatment response in acute myeloid leukemiaATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematologicalmalignanciesPreclinical efficacy of the potent, selective menin-KMT2A inhibitor JNJ-75276617 (bleximenib) inKMT2A- and NPM1-altered leukemias
Roger Foley is a remarkable individual whose story is defined by extraordinary resilience and a relentless fight for justice. Based in London, Ontario, Roger has faced severe challenges due to a debilitating neurodegenerative disease called Spino-cerebellar Ataxia and other health issues that have significantly impacted his mobility and independence. Despite these difficulties, Roger remains a beacon of courage and advocacy. Roger is a graduate of Carleton University with degrees in Economics and History. He has previously served as a National E-Business Manager with the Royal Bank of Canada and is the founder of the Canadian Ataxia Conference. Roger is also a singer and song writer. His dedication to community service was recognized in 2013 when he received a top volunteer award from the Prime Minister's Volunteer Awards, underscoring his commitment to making a positive impact. Roger Foley's story is a testament to his strength and an urgent call for systemic change. His unwavering determination to seek justice and proper care highlights the critical need for support and reform in the treatment of individuals with disabilities. By standing with Roger, we uphold the values of respect, dignity, and humanity that should define our healthcare system. Visit www.HelpRoger.ca Substack: https://substack.com/@kelsisheren Watch on YouTube: https://bit.ly/3opNURn PATREON: patreon.com/thekelsisherenperspective - - - - - - - - - - - - SUPPORT OUR SPONSORS - - - - - - - - - - - - COLDTURE - Code: KELSI - https://coldture.com H.V.M.N - 20% off with code BRASS20 - https://hvmn.com/products/ketone Mindful Meds - 15% off with code BRASS - https://mindfulmeds.io Brass & Unity - 20% off with code UNITY - http://brassandunity.com Three Horses Hat Co - 15% off with code BRASS - https://threehorseshatco.com/ - - - - - - - - - - - - - SHOP B&U Jewelry & Eyewear: https://brassandunity.com - - - - - - - - - - - - - Follow #thekelsisherenperspective - - - - - - - - - - - - - CHARITY Honour House - https://www.honourhouse.ca Heroic Hearts - https://www.heroicheartsproject.org Warrior Angels Foundation - https://warriorangelsfoundation.org All Secure Foundation - http://allsecurefoundation.org Defenders of Freedom -https://www.defendersoffreedom.us The Boot Campaign - https://bootcampaign.org
In this episode of the Brain & Life podcast, co-host Dr. Katy Peters is joined by Helen Kearney, a dressage rider from Ireland who competed in the 2021 Paralympics. Helen shares about her Friedreich's Ataxia diagnosis, how she connects with her horse, and her Paralympic experience. Dr. Peters is then joined by Dr. Sub Subramony, a board-certified neurologist and neuromuscular medicine specialist at the Norman Fixel Institute for Neurological Diseases at University of Florida. Dr. Subramony explains what Friedreich's Ataxia is, how it is diagnosed and treated, and what the future looks like for patients and their families. Additional Resources Meet Six Paralympians Preparing for the 2024 Paris Games What is ataxia and cerebellar or spinocerebellar degeneration? New Research Gives Hope to Patients with Inherited Ataxias Friedreich's Ataxia Research Alliance Other Brain & Life Episodes on this Topic Paralympian Jamal Hill on Winning Bronze with Charcot-Marie-Tooth Olympic Swimmer Rowdy Gaines on His Career and Guillain-Barré Syndrome BMX Athlete Josh Perry's Perseverance Living with Brain Tumors We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? · Record a voicemail at 612-928-6206 · Email us at BLpodcast@brainandlife.org Social Media: Guests: Helen Kearney @HelenKearneyIRL; Dr. Sub Subramony @fixelinstitute Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD
Lauren Moore, CMO, National Ataxia Foundation is on Afternoons Live with guest host Denise Kolpack to discuss the foundation.See omnystudio.com/listener for privacy information.
The Teachers get grilled but more importantly Dylan buys Dune 2 on air. Gnat truth. Lisa comes out to her boss. Ataxia has sciatica too. Message us on TikTok or Instagram to join the Discord For Diceheads! This episode is sponsored by Newsly, the all in one audio app that reads the web to you. Download and use Newsly for free now from here and use promo code Diceland to receive a 1-month free premium subscription.
Real Life Pharmacology - Pharmacology Education for Health Care Professionals
On this episode of the Real Life Pharmacology podcast, I continue my education on the top 200 drugs. Raloxifene, prednisone, phenytoin, fish oil, and ezetimibe are covered in this podcast episode. Prednisone is a corticosteroid that may cause hyperglycemia, insomnia, GI upset, osteoporosis, HPA suppression, and hypertension as primary adverse effects. Raloxifene is classified as a SERM and can be used for osteoporosis and breast cancer. DVT and hot flashes are significant adverse effect concerns. Fish oil (Lovaza) is used to reduce triglycerides. Elevated triglycerides can increase the risk of pancreatitis. Ezetimibe inhibits the absorption of cholesterol through the gut. It lowers LDL but not to the extent of statins. Phenytoin is a narrow therapeutic index medication (NTI) that is used as an anticonvulsant. Ataxia, confusion, GI upset, and vertical nystagmus are potential signs of toxicity.
We discuss a case of ataxia in children and how to approach the evaluation of these pts. Hosts: Ellen Duncan, MD, PhD Brian Gilberti, MD https://media.blubrry.com/coreem/content.blubrry.com/coreem/Ataxia_in_Children.mp3 Download Leave a Comment Tags: Neurology, Pediatrics Show Notes Introduction The episode focuses on ataxia in children, which can range from self-limiting to life-threatening conditions. Pediatric emergency medicine specialist shares insights on the topic. The Case An 18-month-old boy presented with ataxia, unable to keep his head up, sit, or stand, and began vomiting. Previously healthy except for recurrent otitis media and viral-induced wheezing. The decision to take the child to the emergency department (ED) was based on acute symptoms. Differential Diagnosis Common causes include acute cerebellar ataxia, drug ingestion, Guillain-Barre syndrome, and basilar migraine. Less common causes include cerebellitis, encephalitis, brain tumors, and labyrinthitis. Importance of History and Physical Examination A detailed history and physical exam are essential in diagnosing ataxia. Key factors include time course, recent infections, signs of increased intracranial pressure, and toxic exposures. Look for signs such as bradycardia, hypertension, vomiting, and overall appearance. Diagnostic Workup Initial tests include point-of-care glucose and neuroimaging for concerns about trauma or increased intracranial pressure. MRI is preferred for posterior fossa abnormalities, but non-contrast head CT is commonly used due t...
The Teachers escape a trap. Gnat lies to a snake. Lisa comes out. Ataxia defers her payments. Message us on TikTok or Instagram to join the Discord For Diceheads! This episode is sponsored by Newsly, the all in one audio app that reads the web to you. Download and use Newsly for free now from here and use promo code Diceland to receive a 1-month free premium subscription.
In this episode, we review the high-yield topic of Friedreich's Ataxia from the Pediatrics section. Follow Orthobullets on Social Media: Facebook Instagram Twitter LinkedIn YouTube
In this episode, we review the high-yield topic of Friedreich's Ataxia from the Pediatrics section. Follow Orthobullets on Social Media: Facebook Instagram Twitter LinkedIn YouTube
The teachers have their first day of work and we introduce the hit character Gunko. Gnat teaches animals. Lisa is unphased. Ataxia wants to drive. Message us on TikTok or Instagram to join the Discord For Diceheads! This episode is sponsored by Newsly, the all in one audio app that reads the web to you. Download and use Newsly for free now from here and use promo code Diceland to receive a 1-month free premium subscription.
Esta enfermedad neurodegenerativa hereditaria causa un daño progresivo al sistema nervioso y afecta a la capacidad de hablar, andar o tragar de las personas que la padecen. En Julia en la onda hablamos con Marian Vaya, madre de tres hijos afectados con ataxia, para conocer su lucha por eliminar las barreras arquitectónicas del instituto donde estudian los menores. También nos acompaña el doctor Antoni Matilla-Dueñas que nos contará cómo la terapia génica puede ser la solución de esta enfermedad.
Nolan Townsend, CEO of Lexeo Therapeutics, and Jen Farmer, CEO of FARA, the Friedreich's Ataxia Research Alliance, are working together to better understand and treat Friedreich's Ataxia. This rare genetic condition includes cardiomyopathy and scoliosis. Lexeo Therapeutics is studying gene therapy as a potential treatment for the cardiovascular component of the disease. The Friedreich's Ataxia Research Alliance (FARA) plays a role in funding research, understanding the natural history of the disease, and advocating for treatments. Nolan explains, "For most patients in Friedreich's ataxia, cardiovascular disease becomes a very challenging component of the pathology, and it is what's called a hypertrophic cardiomyopathy phenocopy. So, it mimics hypertrophic cardiomyopathy, which is a thickening of the heart wall. And that typically progresses as well, which, for many patients, ends up being the cause of mortality associated with the disease. This pathology does appear to be amenable to treatment approaches like gene therapy, and it's one that we're working on here at Lexeo." Jen elaborates, "As Nolan mentioned, it's caused by mutations in a gene called FXN, and the mutation in the gene causes a silencing of the gene. So, individuals with FA have what we call frataxin deficiency. And frataxin is a highly conserved protein that is important in lots of different cells, which is why the disease affects multiple organ systems. So, while it's a genetic disease, it's this protein deficiency that causes the pathology within the cell. The cells just don't make enough energy and don't function properly, and that's what contributes to the underlying cause of the disease." #FriedreichsAtaxia #CureFA #FAAwarenessMonth #FAAwarenessDay #RareDiseases LexeoTX.com CureFA.org Listen to the podcast here
Nolan Townsend, CEO of Lexeo Therapeutics, and Jen Farmer, CEO of FARA, the Friedreich's Ataxia Research Alliance, are working together to better understand and treat Friedreich's Ataxia. This rare genetic condition includes cardiomyopathy and scoliosis. Lexeo Therapeutics is studying gene therapy as a potential treatment for the cardiovascular component of the disease. The Friedreich's Ataxia Research Alliance (FARA) plays a role in funding research, understanding the natural history of the disease, and advocating for treatments. Nolan explains, "For most patients in Friedreich's ataxia, cardiovascular disease becomes a very challenging component of the pathology, and it is what's called a hypertrophic cardiomyopathy phenocopy. So, it mimics hypertrophic cardiomyopathy, which is a thickening of the heart wall. And that typically progresses as well, which, for many patients, ends up being the cause of mortality associated with the disease. This pathology does appear to be amenable to treatment approaches like gene therapy, and it's one that we're working on here at Lexeo." Jen elaborates, "As Nolan mentioned, it's caused by mutations in a gene called FXN, and the mutation in the gene causes a silencing of the gene. So, individuals with FA have what we call frataxin deficiency. And frataxin is a highly conserved protein that is important in lots of different cells, which is why the disease affects multiple organ systems. So, while it's a genetic disease, it's this protein deficiency that causes the pathology within the cell. The cells just don't make enough energy and don't function properly, and that's what contributes to the underlying cause of the disease." #FriedreichsAtaxia #CureFA #FAAwarenessMonth #FAAwarenessDay #RareDiseases LexeoTX.com CureFA.org Download the transcript here
In this episode, Jim,my and his crew delve into ataxia, a neurological disorder affecting coordination and balance. They explorcauses,symptoms,andtreatment options. The episode aims to raise awareness, provide support, and highlight ongoing research efforts in the field of ataxia. Websites from this episode: Fmous Apple: wwa.famousapple.com Living with a disability: www.famousapple.com/group Contact Jimmy At: jimmy@famousapple.com
The teachers meet the other teachers as they try to join a union. Gnat gets signatures. Lisa breaks some hearts. Ataxia hacks the system. Message us on TikTok or Instagram to join the Discord For Diceheads! This episode is sponsored by Newsly, the all in one audio app that reads the web to you. Download and use Newsly for free now from here and use promo code Diceland to receive a 1-month free premium subscription.
“When the world gives you no hope whatsoever in a situation you have 2 options: you can completely turn away from God. Or you can say, The world gives me no hope, so I'm going to hang on to the one thing that will.” ~Amber HayesNavigating parenthood is often compared to embarking on an epic journey, filled with unexpected twists and turns. In our latest podcast episode, we delve into a family's extraordinary journey of love, resilience, and faith. Amber opens up about the challenges and triumphs of parenting, particularly in the face of a rare medical condition diagnosed in their son, Nolan.One of the pivotal moments in the episode is Amber's recounting of their journey to parenthood through IVF. The initial joy of becoming parents is soon overshadowed by the discovery of Nolan's condition, Ataxia Telangiectasiam, a rare and progressive neurological disorder. The uncertainty and anxiety that come with such a diagnosis are palpable, as the family navigates through a series of medical tests and consultations. Faith plays a central role in this family's story. Amber discusses how their belief in God's promises provided a source of strength and peace amidst the chaos. Nolan's progress, from walking and playing sports to participating in American Ninja Warrior gym classes, is celebrated as a testament to God's faithfulness. The episode underscores that faith is not just a passive hope but an active, sustaining force that helps them face each day with courage and optimism.Another profound theme explored in the episode is the concept of finding faith in uncertainty. Amber reflects on the difficulty of waiting for answers and the struggle of trusting in God's plan without knowing the future. This period of waiting has deepened their connection with Jesus and led to a greater reliance on God's word. They emphasize the importance of living in the moment and recognizing everyday miracles, no matter how small. This mindset shift, from seeking grand miracles to appreciating incremental progress, is a powerful lesson for anyone facing similar trials.Throughout the episode, Amber's story is a poignant reminder that while we may not have control over life's trials, we can choose how we respond to them. By focusing on faith, resilience, and the support of our community, we can navigate even the most daunting challenges with grace and strength. You can find “Ordinary People Extraordinary Things” anywhere you listen to podcasts or Check out the links below....⬇️➡️ https://www.buzzsprout.com/1882033➡️ https://generationstogenerations.com/podcast➡️ https://www.youtube.com/@GenNancyordinarypeoplestories@gmail.com https://www.facebook.com/ordinarypeoplestory https://www.instagram.com/ordinarypeopleextraordinary/ X: @storiesextra Any advice should be confirmed with a qualified professional.All rights reserved: Ordinary People Extraordinary ThingsStories shared by guests may not always be shared views of OPET. Being a guest does not mean OPET approves of every decision or action in the guests' life. We all have a story, all of us, share your story. You don't have to have the perfect answer or the perfect life - share what Jesus is doing in your life. This is an easy, real way to witness & share your testimony.
On an all new season of Diceland, we're taking your ass to school. A new year has begun at The Windwall Adventuring and Wizarding Academy and teachers Gnat, Ataxia and Lisa Ann must face off against the dreaded Back To School Knights for their yearly supplies. Will they prevail? I hope so, it's only the first episode. New setting, new characters, new ingredients, Papa Johns. I mean, welcome to Diceland: Honor Roll. Join our Discord For Dice Heads by following the show on TikTok or Instagram and messaging us. This episode is sponsored by Newsly, the all in one audio app that reads the web to you. Download and use Newsly for free now from here and use promo code Diceland to receive a 1-month free premium subscription.
Tom thinks the New York portal is a success. Donna was intrigued by the idea of apartments for the Over 55's. Can a chocolate bar help someone deal with the menopause? Albert's wife took ill mid-flight. Pat is annoyed by the new tethered caps. Margaret has a construction site next to her house.
In episode 251 we welcome our dear friend Linda Snyder! Linda shares her personal journey living with a rare genetic type of ataxia and discusses how she discovered the benefits of having a mobility service dog named Cedric. She talks about the rigorous process of applying for a service dog, the extensive training Cedric underwent, and the various tasks he assists her with, including laundry! Additionally, Linda shares her involvement in the rare disease community, particularly her role in co-founding the Nebraska Ataxia (Now called Ataxia Connection), a support group that has grown significantly over the years. She discusses the impact of connecting with others who share similar experiences and the importance of supporting one another. Also in this episode: Kyle cheats Target out of 15 cents Rare Resilience: Rob Long, Executive Director of Uplifting Athletes Thank you notes: Starbucks baristas & Pat O'Connel Links and resources: Canine Partners for Life Visit our segment partner: #RAREis
Say hello to Arlee and Abel!
Welcome to the NeurologyLive® Mind Moments® podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice. In this episode, Francesco Saccà, MD, PhD, an associate professor of neurology at the University of Naples, discussed an ongoing study assessing the use of dimethyl fumarate, an approved therapy for relapsing multiple sclerosis, in patients with Friedreich ataxia (FA). He spoke on the mechanism of action of the agent and why it can be beneficial in this patient population, as well as how it differs from omaveloxolone (Skyclarys; Biogen), the first approved treatment for FA. In addition, he outlined the study design, the primary end point of frataxin decrease, and what would be considered a "successful" study. Furthermore, he spoke on the reasons behind the trial and what led investigators to this point. Looking for more ataxia discussion? Check out the NeurologyLive® ataxia clinical focus page. Episode Breakdown: 1:05 – Origin of the study 3:00 – Conduct of the study, end points, goals 5:10 – Promising mechanism of action of dimethyl fumarate to treat Friedreich ataxia 7:30 – Questions in clinical impact of changes in frataxin 10:00 – Neurology News Minute 12:40 – What is considered a successful study? 14:55 – Patient inclusion, demographic makeup of the study 16:35 – Timeline of the trial and data readout The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here: FDA Approves Alexion's Ravulizumab-cwvz for Neuromyelitis Optica Spectrum Disorder Epilepsy Agent STK-001 Demonstrates Disease-Modifying Effects in Early Phase Studies of Dravet Syndrome Eisai Submits sBLA for Monthly Intravenous Maintenance Dosing of Alzheimer Therapy Lecanemab Thanks for listening to the NeurologyLive® Mind Moments® podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com.
Author and Advocate, Jennifer Gasner, shares her journey with Friedrich's Ataxia and a chance encounter with a very generous Dave Matthews
What do you do when a teenager with odd (and concerning) neurological symptoms walks into you ER and how do you apply the PEM Rules to work him up step by step?
In this episode, we review the high-yield topic of Friedreich's Ataxia from the Knee & Sports section. Follow Orthobullets on Social Media: Facebook Instagram Twitter LinkedIn YouTube --- Send in a voice message: https://podcasters.spotify.com/pod/show/orthobullets/message
Friedreich's ataxia is a rare, genetic, degenerative disorder that affects multiple systems in the body. As the disease progresses, patients typically experience various heart conditions. Hypertrophic cardiomyopathy, fibrosis, heart failure, and arrhythmias are the cause of death in approximately two-thirds of Friedreich's ataxia patients. Lexeo Therapeutics is developing a gene therapy to treat FA cardiomyopathy. We spoke to R. Nolan Townsend, CEO of Lexeo Therapeutics, about Friedreich's ataxia, the company's gene therapy in development, and its pursuit of gene therapies for both rare and common diseases.
In this installment of our series on rare neurologic diseases, Christina Burke talks with Jeannie Stephenson and Staci Shearin about Friedreich's Ataxia, a progressive, autosomal recessive hereditary multi-system neurodegenerative disease that impacts approximately 1 in 40,000 people in the U.S. Jeannie and Staci cover assessment, PT treatment and prognosis for people with this unique diagnosis that causes significant balance and gait challenges. The Degenerative Diseases Special Interest Group is part of the Academy of Neurologic Physical Therapy – www.neuroPT.org Show notes available here : https://www.neuropt.org/docs/default-source/degenerative-diseases-sig/4d-podcast-show-notes---2019/ddsig-podcast-show-notes-2023/show-notes---episode-47-jeannie-stephenson-staci-shearin.pdf