LGMD1D DNAJB6 Foundation
LGMD1D DNAJB6 Foundation
  • 61
  • 11 011
Nat Joe Wed Phone vid
Nat Joe Wed Phone vid
มุมมอง: 16

วีดีโอ

2024 LGMD Lecture
มุมมอง 612 หลายเดือนก่อน
Current overview of LGMD from diagnosis to therapy
FSHD Exercise and New Therapies
มุมมอง 843 หลายเดือนก่อน
Review of the latest therapies for FSHD and exercise recommendations
Riboflavin Deficiency SLC52A3 Variant
มุมมอง 93 หลายเดือนก่อน
Mimicking ALS or Myasthenia, treatable with Riboflavin
Case Reports RYR1, DMD, Congenital Myasthenia
มุมมอง 343 หลายเดือนก่อน
Case reports
Genetic Testing and Myalgia Workup
มุมมอง 13 หลายเดือนก่อน
Does your myalgia have a metabolic or genetic cause.
Progressive Teenage Fatigue
มุมมอง 63 หลายเดือนก่อน
Progressive fatigue and weakness in young adult
Early Fatigue in children
มุมมอง 183 หลายเดือนก่อน
Diagnoses for early onset fatigue after age 2 years
Gene Therapy Risks, AAV Vector
มุมมอง 593 หลายเดือนก่อน
Gene Therapy Risks, AAV Vector
CMT, SORD
มุมมอง 313 หลายเดือนก่อน
Update on Charcot Marie Tooth Neuropathy
MAKING GENE THERAPY MORE VERSATILE FOR LGMD, 2023
มุมมอง 3567 หลายเดือนก่อน
Applying Gene Therapy to LGMDs • Matthew P. Wicklund, MD, University of Texas in San Antonio Bespoke Gene Therapy Initiative • Phillip (PJ) Brooks, PhD, National Institutes of Health What will Gene Therapy 2.0 Look Like? • Sharon Hesterlee, PhD, Muscular Dystrophy Association
Therapeutic Approaches for Dominantly Inherited LGMDs, 2023
มุมมอง 357 หลายเดือนก่อน
• Andrew Findlay, MD, Washington University presents the latest in understanding of the mechanisms of autosomal dominant LGMD and its application to evolving genetic therapies.
CLINICAL TRIAL UPDATES for LGMD, 2023 (Part 1)
มุมมอง 3947 หลายเดือนก่อน
ML Bio Solutions: Update on BBP-418 clinical studies for LGMD 2i/R9 • Doug Sproule, MD, ML Bio Solution SareptaTherapeutics: LGMD2E/R4 and LGMD2B/R2 Gene Therapy • Louise Rodino-Klapac, PhD, Sarepta Therapeutics Preliminary Experiences with Atamyo's FKRP Gene Therapy • John Vissing, MD, University of Copenhagen
LGMD DIAGNOSIS AND CLINICAL CARE:
มุมมอง 797 หลายเดือนก่อน
The NIH Diagnostic Program for Neuromuscular Diseases Carsten Bonnemann, MD, National Institutes of Health Conrad (Chris) Weihl, MD, PhD, Washington University School of Medicine Clarifying the Genetics of LGMDs Developing Standards of Care for LGMDs Volker Straub, MD, PhD, University of Newcastle, UK
2023 MDA Conference: FDA Guidelines and Processes for Approval of Genetic therapies.
มุมมอง 105ปีที่แล้ว
2023 MDA Conference: FDA Guidelines and Processes for Approval of Genetic therapies.
2023 MDA Conference: New Paradigms for Ultra Rare Genetic Diseases
มุมมอง 129ปีที่แล้ว
2023 MDA Conference: New Paradigms for Ultra Rare Genetic Diseases
2023 MDA Conference: Advances in Therapy for Mitochondrial Myopathies.
มุมมอง 162ปีที่แล้ว
2023 MDA Conference: Advances in Therapy for Mitochondrial Myopathies.
2023 MDA Conference: Gene therapy for Cardiac Disease featuring DMD
มุมมอง 111ปีที่แล้ว
2023 MDA Conference: Gene therapy for Cardiac Disease featuring DMD
2023 MDA Conference: Periodic Paralysis and LGMD with a focus on the SCN4A and CACNA1S variants.
มุมมอง 90ปีที่แล้ว
2023 MDA Conference: Periodic Paralysis and LGMD with a focus on the SCN4A and CACNA1S variants.
2023 MDA Conference: New Research and Therapy Possibilities for FSHD
มุมมอง 163ปีที่แล้ว
2023 MDA Conference: New Research and Therapy Possibilities for FSHD
2023 MDA Conference: Inherited Neuropathies, Charcot Marie Tooth and TRPV4 Research
มุมมอง 421ปีที่แล้ว
2023 MDA Conference: Inherited Neuropathies, Charcot Marie Tooth and TRPV4 Research
2023 MDA Conference: CAPN3 cell therapy, FKRP Ribitol Therapy
มุมมอง 170ปีที่แล้ว
2023 MDA Conference: CAPN3 cell therapy, FKRP Ribitol Therapy
2023 MDA Conference: ALS
มุมมอง 71ปีที่แล้ว
2023 MDA Conference: ALS
2023 MDA Conference: FDA Keynote Address On Genetic Therapy, Peter Marks MD PhD
มุมมอง 473ปีที่แล้ว
2023 MDA Conference: FDA Keynote Address On Genetic Therapy, Peter Marks MD PhD
Hemophilia A NEJM _Genetic .therapy
มุมมอง 501ปีที่แล้ว
Hemophilia A NEJM _Genetic .therapy
Home Screening for Colon Cancer: Cologuard
มุมมอง 20ปีที่แล้ว
Home Screening for Colon Cancer: Cologuard
Home Care for the LGMD Community: Diagnosing Urinary Tract Infections
มุมมอง 17ปีที่แล้ว
Home Care for the LGMD Community: Diagnosing Urinary Tract Infections
Home Medical Care for the LGMD Community: home EKG device for recording heart rhythm.
มุมมอง 30ปีที่แล้ว
Home Medical Care for the LGMD Community: home EKG device for recording heart rhythm.
Home Medical Care for the LGMD Community: introduction to the home otoscope.
มุมมอง 24ปีที่แล้ว
Home Medical Care for the LGMD Community: introduction to the home otoscope.

ความคิดเห็น

  • @diyasingh6724
    @diyasingh6724 2 หลายเดือนก่อน

    👍

  • @CricketGirrl
    @CricketGirrl 4 หลายเดือนก่อน

    Are there any resource I can give my primary care provider? Everything I've found is longer than she'll read in a 10-minute appointment. I am concerned I have adult onset mitchondrial myopathy, and I am extremely ill.

  • @user-mu9tr7ez8f
    @user-mu9tr7ez8f 8 หลายเดือนก่อน

    Моему сыну 7 лет, у него дефицит альфа 1 антитрипсина. Поражение печени. Дорогие учёные, врачи все кто работает над этим чудо препаратом фазирсиран, пожалуйста умоляю вас сделайте всё ,что бы этот препарат вышел на рынок, ведь это такая радостная новость для нас, мы надеемся что этот препарат пройдёт все фазы исследований.

  • @Texasgirl472
    @Texasgirl472 ปีที่แล้ว

    DES c.1273G>C here :)

  • @sebasG48
    @sebasG48 ปีที่แล้ว

    can ciprofloxacin lead to this as it has been proven to affect topoisomerase inhibition

    • @lgmd1d
      @lgmd1d ปีที่แล้ว

      Hi Sebastion, Cipro can cause a neuropath and weakness, be careful and try to avoid this class of antibiotics

    • @johnathanabrams8434
      @johnathanabrams8434 ปีที่แล้ว

      Please elaborate more on this connection between cipro and mitochondrial dysfunction

    • @wslowery57
      @wslowery57 ปีที่แล้ว

      @@johnathanabrams8434

    • @johnathanabrams8434
      @johnathanabrams8434 ปีที่แล้ว

      @@wslowery57 what?

    • @sunnya8
      @sunnya8 6 หลายเดือนก่อน

      After one week on levo, I couldn’t even get out of my car I was so weak! 😢😢

  • @SaturdayCrunch
    @SaturdayCrunch ปีที่แล้ว

    Hey im a new VUS medically diagnosed lgmd but my vus is for LGMDD1 c.772c>T

  • @cjbartoz
    @cjbartoz ปีที่แล้ว

    Most mitochondrial disease is most likely caused by oxygen shortage at the cell level.

    • @johnathanabrams8434
      @johnathanabrams8434 ปีที่แล้ว

      Why and how ? Can you explain the mechanisms ?

    • @cjbartoz
      @cjbartoz ปีที่แล้ว

      @@johnathanabrams8434 The normal respiratory rate in adults at rest is 12 breaths/min. Normal resting tidal volume is 500ml which is just 8-14% of lung capacity. A 500ml tidal breath is just visible as a small outward movement at the level of the solar plexus. Normal breathing is strictly characterized by three features: - Nasal (in and out) - mainly diaphragmatic (i.e., abdominal) - slow (in frequency) and imperceptible (no feelings or sensation about one’s own breathing at rest). The physiological and medical norm for respiratory minute ventilation at rest is 6 liters per minute for a 70 kg man (references: Guyton, 1984; Ganong, 1995; Straub, 1998; Castro, 2000; etc.). These textbooks also provide the following numbers for normal breathing at rest: - normal TV (tidal volume or air volume breathed in during a single breath): 500 ml - normal Rf (respiratory frequency or respiratory rate): 12 breaths per minute - inspiration: about 1.5-2 seconds - normal exhalation is 1.5-2 seconds, followed by an automatic pause (no breathing for 1-2 seconds) Practice shows that 9 in 10 people in the Western world breathe too quickly and too deeply.

    • @cjbartoz
      @cjbartoz ปีที่แล้ว

      @@johnathanabrams8434 About The Buteyko Method: A Summary of the Pathophysiology of Chronic Hyperventilation by Ira Packman, M.D. The fact that chronic hyperventilation (CHV) has an effect on the lungs is easily understood and explained. The systemic (whole body) effects however, are physically and physiologically distant from the lungs and therefore are more difficult to understand. The multi-system, wide spread systemic ramifications of chronic hyperventilation are numerous. These effects are all caused by the initial effect of pulmonary hypocapnia (low CO2) which causes spasm of the airways leading to asthma. The loss of CO2 from the lung on a long term basis causes a compensatory response throughout the body. This concept is called homeostasis which means that the body is always trying to stay in balance and return to its most comfortable state. A partial list of homeostatic controls would include: - Constant body temperature - Constant whole body water volume - Glucose levels - Mineral balance including sodium, potassium, magnesium, zinc etc. - Acid base balance (Ph control) The acid base/Ph control mechanisms are very sensitive and closely controlled, because the Ph of the body affects the function of every body system. It is this system that is activated when patients chronically hyperventilate. Understanding this concept, we can follow what happens with CHV. - The lungs continuously blow off too much CO2 causing local pulmonary hypocapnia (low CO2) and arterial hypocapnia. - The arterial hypocapnia immediately changes the Ph of the circulating blood causing an increase in the Ph (alkalosis). - The increase in the Ph causes a decrease in the delivery of Oxygen to all the bodies tissues due to the Bohr Effect (In an alkalotic environment, the hemoglobin molecules in the red cells hold onto the oxygen molecules more tightly and will not release the O2 to the tissues). - The kidneys see the alkalosis/Ph change and know that it must correct the bodies Ph back towards neutral (neutral Ph is a Ph of 7.40). Once CHV becomes long standing the kidneys response becomes an ongoing process in which the kidneys excrete bicarbonate in an attempt to correct the alkalosis which was created by the CHV. - The net result is a depletion of the bicarbonate buffers due to continuous over excretion of bicarbonate which also causes the loss of electrolytes including magnesium and phosphorous which are lost with the bicarbonate. - The loss of phosphorous also decreases the production of ATP (adenosine tri-phosphate) and ADP which are the bodies’ main source of energy. - This then causes a decrease in the functioning of many organs including the muscles, heart, lungs, bone marrow, immune system and liver. - These functional changes, coupled with the arterial spasm that occurs directly due to the low CO2 levels in the blood, are expressed in the long term as muscle fatigue, hypertension due to arterial spasm, decrease in the oxygenation of the brain, migraine headaches due to arterial spasm, spasm of the arteries supplying the gut, decrease brain function with memory changes, alterations in the production of proteins and metabolism of lipids in the liver causing elevated cholesterol. This is just a partial list of the systems, organs and bodily functions which are affected by CHV and the subsequent low CO2 levels in the lungs and blood. This concept regarding the origins and causes of these diseases is very radically different from the way medical schools teach about these diseases. It is revolutionary and may be too simple for many academicians to accept or understand.

    • @Spectre2434
      @Spectre2434 6 หลายเดือนก่อน

      ❤❤❤

  • @SaturdayCrunch
    @SaturdayCrunch 2 ปีที่แล้ว

    Lgmd1d C.772C>T here!

  • @Rodrigo-tk2fm
    @Rodrigo-tk2fm 2 ปีที่แล้ว

    I'm extremely excited but I don't if I should be. Everything is looking very promising. Thanks to all of our scientists and doctors as well as those behind the financing of ongoing research.

  • @smithabs593
    @smithabs593 2 ปีที่แล้ว

    Am suffering from 6year in the disease of the( limb girdle muscular dystrophy 2I) plz treatment any treatment in cureable treatment can be caused plz plz help me

  • @timlowery7156
    @timlowery7156 2 ปีที่แล้ว

    Good vid for the layman!

  • @julianmarq1972
    @julianmarq1972 2 ปีที่แล้ว

    Great vid, about to check out some more of your videos. This deserves more views, I think you should use PromoSM it’s the best way to grow your channel quickly!

  • @Abass7560
    @Abass7560 2 ปีที่แล้ว

    Plz tell me is there any cure of lgmd.if not how much time time it will take.i have Lgmd

    • @wslowery57
      @wslowery57 2 ปีที่แล้ว

      Hi Abbas, there are therapeutic options for the LGMD2s (autosomal recessive) depending on which one you have. LGMD1s (autosomal dominant) are several years away so it depends on which you have. Please specify.

  • @smithabs593
    @smithabs593 3 ปีที่แล้ว

    Plz help me am suffering from 6year in the disease of the limb girdle muscular dystrophy 2I treatment plz help me

    • @wslowery57
      @wslowery57 3 ปีที่แล้ว

      Hello , please contact Sarepta on their website for patient studies and therapy, also go to homepage for LGMD 2I: www.lgmd2i.com/

  • @Rakeshjain-eg4gf
    @Rakeshjain-eg4gf 3 ปีที่แล้ว

    I am living at India

  • @Rakeshjain-eg4gf
    @Rakeshjain-eg4gf 3 ปีที่แล้ว

    I want to take gene theraphy for lgmd. Can u help me? Pl guide me.

    • @wslowery57
      @wslowery57 3 ปีที่แล้ว

      Hi Rakesh, you will need to get a specific genetic diagnosis which means genetic testing in India and I am sure it is available.

  • @jitukushwah3144
    @jitukushwah3144 3 ปีที่แล้ว

    Any treatment for LGmd

    • @wslowery57
      @wslowery57 3 ปีที่แล้ว

      Autosomal recessive LGMDs are being treated at Sarepta now and see there website for details. Autosomal dominant LGMDs are about 5 years away. You need a genetic diagnosis though and I help with free testing here: lgmd1d.org/lgmdwp/free-genetic-testing-form/

  • @anuvishnoi8766
    @anuvishnoi8766 3 ปีที่แล้ว

    Any treatment for DMD?

    • @wslowery57
      @wslowery57 3 ปีที่แล้ว

      Hi Anu, Yes as I described to Rakesh, and with DMD there are so many therapies now. www.duchennedatafoundation.org/, www.mda.org/disease/duchenne-muscular-dystrophy/research Please start with these websites but search for more, Thanks, William Lowery MD