- published: 24 Mar 2016
- views: 15598
-
remove the playlistFacioscapulohumeral Muscular Dystrophy
- remove the playlistFacioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle. Orpha.net lists the prevalence as 4/100,000 while a 2014 population-based study in the Netherlands reported a significantly higher prevalence of 12 in 100,000.
Symptoms may develop in early childhood and are usually noticeable in the teenage years with 95% of affected individuals manifesting disease by age 20 years. A progressive skeletal muscle weakness usually develops in other areas of the body as well; often the weakness is asymmetrical. Life expectancy can be threatened by respiratory insufficiency and up to 20% of affected individuals become severely disabled requiring use of a wheel chair or mobility scooter. In a Dutch study approximately 1% of patients required (nocturnal or diurnal) ventilatory support. Non-muscular symptoms frequently associated with FSHD include subclinical sensorineural hearing loss and retinal telangiectasia. In more than 95% of known cases, the disease is associated with contraction of the D4Z4 repeat in the 4q35 subtelomeric region of Chromosome 4. Seminal research published in August 2010 now shows the disease requires a second mechanism, which for the first time provides a unifying theory for its underlying genetics. The second mechanism is a "toxic gain of function" of the DUX4 gene, which is the first time in genetic research that a "dead gene" has been found to "wake up" and cause disease.
This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/Facioscapulohumeral_muscular_dystrophy
FSHD (disambiguation)
FSHD may refer to:
This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/FSHD_(disambiguation)
Podcasts:
-
Facioscapulohumeral muscular dystrophy
This video featuring people affected by facioscapulohumeral muscular dystrophy and specialist neuromuscular health professionals is an introduction to the main facets of facioscapulohumeral muscular dystrophy and the support that is available from Muscular Dystrophy UK.
published: 24 Mar 2016 -
FSH Muscular Dystrophy 101
This video explains the basic facts about facioscapulohumeral muscular dystrophy--the symptoms, how it affects those who have it, how it is inherited, and how many people are affected. Thank you to Taylor Toole for compiling this video. Image and video credits: Romana Vysatova, Brent Rowlett, Randy Schafer, Ellen Feldman, and Martyn Kitney. For more information and news about advances in treating FSHD, please visit fshdsociety.org
published: 29 Sep 2021 -
FSH Muscular Dystrophy
FSHD is one of the most common forms of muscular dystrophy. Learn more about this debilitating disease and listen to the stories of people affected by FSHD. Please visit our website for more information and to see how you can help us find a cure: http://www.fshdglobal.org Donate now: http://bit.ly/SupportFSHDresearch
published: 09 Feb 2014 -
MDA Engage Facioscapulohumeral Muscular Dystrophy
published: 10 Nov 2021 -
Facioscapulohumeral Muscular Dystrophy
Diego Cadavid, MD, of Fulcrum Therapeutics explains facioscapulohumeral muscular dystrophy. Facioscapulohumeral muscular dystrophy is a rare disabling disease characterized by progressive skeletal muscle loss. The disease generally begins with weakness in facial muscles but as the condition progresses, shoulders, arms and trunk, and eventually the rest of the body is affected. progresses to weakness throughout the lower body. The condition is due to mutations in the DUX4 gene. Fulcrum Therapeutics has a phase II clinical trial currently underway to test the safety and efficacy of losmapimod, a mitogen-activated protein kinase (MAPK) inhibitor, in persons with facioscapulohumeral muscular dystrophy. To learn more about this and other rare neuromuscular disorders, visit checkrare.com/d...
published: 19 Jan 2020 -
Facioscapulohumeral Muscular Dystrophy
What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy, or FSHD for short, is a genetic neuromuscular disorder that causes weakness in the muscles of the face, shoulder blades, and upper arms. FSHD is caused by the inherited abnormal expression of an gene called DUX4, which produces a protein that is toxic to muscle cells. #shorts #rarediseases Find our full video library only on Osmosis: http://osms.it/more. Join millions of current and future clinicians who learn by Osmosis, along with hundreds of universities around the world who partner with Osmosis from Elseiver to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you for success in school, on your board exams, and as a future clini...
published: 23 Jun 2023 -
Updates in Facioscapulohumeral Muscular Dystrophy (FSHD)
This webinar featuring Rabi Tawil, MD, of the University of Rochester Medical Center, will provide an update on the facioscapulohumeral muscular dystrophy (FSHD) treatment landscape and briefly discuss the status of FSHD understanding, diagnosis, and research. This webinar is supported in part by an independent educational grant from Fulcrum Therapeutics and Avidity Biosciences.
published: 18 Aug 2023 -
Introduction to Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms. Today Dr. Tarnopolsky is discussing the fundamentals of FSHD and why exercise could be your secret weapon to improve your health-span. We understand that FSHD can present unique challenges to maintaining an active lifestyle, so be sure to check out our specific exercise videos designed to guide you safely though your workouts and offer practical tips regardless of your ability level.
published: 13 Apr 2023 -
Finding my FSH muscular dystrophy family
After Katie was diagnosed with FSH muscular dystrophy, she found a new sense of purpose after she connected with others with facioscapulohumeral muscular dystrophy. Here is her story. This video was produced by the Westminster High School Video Cinema Arts program in conjunction with CenterStage Films. Special thanks to Chris Williams.
published: 11 Nov 2017 -
Neuromuscular diseases: Facioscapulohumeral muscular dystrophy
Bruce Hermesch, of Seneca, Kan., has facioscapulohumeral muscular dystrophy (FSHD), a disorder characterized by muscle weakness and atrophy. He can walk limited distances with the help of a cane but uses his power chair for longer distances. Video and Photos by: ALLISON LONG/along@kcstar.com
published: 02 May 2015
developed with YouTube
7:24
Facioscapulohumeral muscular dystrophy
- Order: Reorder
- Duration: 7:24
- Uploaded Date: 24 Mar 2016
- views: 15598
This video featuring people affected by facioscapulohumeral muscular dystrophy and specialist neuromuscular health professionals is an introduction to the main ...
This video featuring people affected by facioscapulohumeral muscular dystrophy and specialist neuromuscular health professionals is an introduction to the main facets of facioscapulohumeral muscular dystrophy and the support that is available from Muscular Dystrophy UK.
https://wn.com/Facioscapulohumeral_Muscular_Dystrophy
This video featuring people affected by facioscapulohumeral muscular dystrophy and specialist neuromuscular health professionals is an introduction to the main facets of facioscapulohumeral muscular dystrophy and the support that is available from Muscular Dystrophy UK.
3:43
FSH Muscular Dystrophy 101
- Order: Reorder
- Duration: 3:43
- Uploaded Date: 29 Sep 2021
- views: 4465
This video explains the basic facts about facioscapulohumeral muscular dystrophy--the symptoms, how it affects those who have it, how it is inherited, and how m...
This video explains the basic facts about facioscapulohumeral muscular dystrophy--the symptoms, how it affects those who have it, how it is inherited, and how many people are affected.
Thank you to Taylor Toole for compiling this video. Image and video credits: Romana Vysatova, Brent Rowlett, Randy Schafer, Ellen Feldman, and Martyn Kitney.
For more information and news about advances in treating FSHD, please visit fshdsociety.org
https://wn.com/Fsh_Muscular_Dystrophy_101
This video explains the basic facts about facioscapulohumeral muscular dystrophy--the symptoms, how it affects those who have it, how it is inherited, and how many people are affected.
Thank you to Taylor Toole for compiling this video. Image and video credits: Romana Vysatova, Brent Rowlett, Randy Schafer, Ellen Feldman, and Martyn Kitney.
For more information and news about advances in treating FSHD, please visit fshdsociety.org
- published: 29 Sep 2021
- views: 4465
6:54
FSH Muscular Dystrophy
- Order: Reorder
- Duration: 6:54
- Uploaded Date: 09 Feb 2014
- views: 59583
FSHD is one of the most common forms of muscular dystrophy. Learn more about this debilitating disease and listen to the stories of people affected by FSHD. Ple...
FSHD is one of the most common forms of muscular dystrophy. Learn more about this debilitating disease and listen to the stories of people affected by FSHD. Please visit our website for more information and to see how you can help us find a cure: http://www.fshdglobal.org
Donate now: http://bit.ly/SupportFSHDresearch
https://wn.com/Fsh_Muscular_Dystrophy
FSHD is one of the most common forms of muscular dystrophy. Learn more about this debilitating disease and listen to the stories of people affected by FSHD. Please visit our website for more information and to see how you can help us find a cure: http://www.fshdglobal.org
Donate now: http://bit.ly/SupportFSHDresearch
- published: 09 Feb 2014
- views: 59583
1:00:53
MDA Engage Facioscapulohumeral Muscular Dystrophy
- Order: Reorder
- Duration: 1:00:53
- Uploaded Date: 10 Nov 2021
- views: 3506
- published: 10 Nov 2021
- views: 3506
1:53
Facioscapulohumeral Muscular Dystrophy
- Order: Reorder
- Duration: 1:53
- Uploaded Date: 19 Jan 2020
- views: 1847
Diego Cadavid, MD, of Fulcrum Therapeutics explains facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy is a rare disabling disease ...
Diego Cadavid, MD, of Fulcrum Therapeutics explains facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy is a rare disabling disease characterized by progressive skeletal muscle loss. The disease generally begins with weakness in facial muscles but as the condition progresses, shoulders, arms and trunk, and eventually the rest of the body is affected. progresses to weakness throughout the lower body.
The condition is due to mutations in the DUX4 gene. Fulcrum Therapeutics has a phase II clinical trial currently underway to test the safety and efficacy of losmapimod, a mitogen-activated protein kinase (MAPK) inhibitor, in persons with facioscapulohumeral muscular dystrophy.
To learn more about this and other rare neuromuscular disorders, visit checkrare.com/diseases/musculoskeletal-diseases/
https://wn.com/Facioscapulohumeral_Muscular_Dystrophy
Diego Cadavid, MD, of Fulcrum Therapeutics explains facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy is a rare disabling disease characterized by progressive skeletal muscle loss. The disease generally begins with weakness in facial muscles but as the condition progresses, shoulders, arms and trunk, and eventually the rest of the body is affected. progresses to weakness throughout the lower body.
The condition is due to mutations in the DUX4 gene. Fulcrum Therapeutics has a phase II clinical trial currently underway to test the safety and efficacy of losmapimod, a mitogen-activated protein kinase (MAPK) inhibitor, in persons with facioscapulohumeral muscular dystrophy.
To learn more about this and other rare neuromuscular disorders, visit checkrare.com/diseases/musculoskeletal-diseases/
- published: 19 Jan 2020
- views: 1847
0:30
Facioscapulohumeral Muscular Dystrophy
- Order: Reorder
- Duration: 0:30
- Uploaded Date: 23 Jun 2023
- views: 16039
What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy, or FSHD for short, is a genetic neuromuscular disorder that causes weakn...
What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy, or FSHD for short, is a genetic neuromuscular disorder that causes weakness in the muscles of the face, shoulder blades, and upper arms. FSHD is caused by the inherited abnormal expression of an gene called DUX4, which produces a protein that is toxic to muscle cells.
#shorts #rarediseases
Find our full video library only on Osmosis: http://osms.it/more.
Join millions of current and future clinicians who learn by Osmosis, along with hundreds of universities around the world who partner with Osmosis from Elseiver to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you for success in school, on your board exams, and as a future clinician. Sign up for a free trial at http://osms.it/more. If you're interested in exploring an institutional partnership, visit osmosis.org/educators to request a personalized demo.
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Medical disclaimer: Osmosis from Elsevier does not provide medical advice. Osmosis from Elsevier and the content available on the Osmosis from Elsevier properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed healthcare provider. Always seek the advice of a physician or other qualified healthcare professional with any questions you have regarding a medical condition.
© 2024 Elsevier. All rights reserved.
https://wn.com/Facioscapulohumeral_Muscular_Dystrophy
What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy, or FSHD for short, is a genetic neuromuscular disorder that causes weakness in the muscles of the face, shoulder blades, and upper arms. FSHD is caused by the inherited abnormal expression of an gene called DUX4, which produces a protein that is toxic to muscle cells.
#shorts #rarediseases
Find our full video library only on Osmosis: http://osms.it/more.
Join millions of current and future clinicians who learn by Osmosis, along with hundreds of universities around the world who partner with Osmosis from Elseiver to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you for success in school, on your board exams, and as a future clinician. Sign up for a free trial at http://osms.it/more. If you're interested in exploring an institutional partnership, visit osmosis.org/educators to request a personalized demo.
Follow us on social:
Facebook: http://osms.it/facebook
Twitter: http://osms.it/twitter
Instagram for med: http://osms.it/instagram
Instagram for nursing: https://osms.it/ignursing
TikTok: https://osms.it/tiktok
Linkedin: https://osms.it/linkedin
Our Vision: Everyone who cares for someone will learn by Osmosis.
Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: http://osms.it/mission
Medical disclaimer: Osmosis from Elsevier does not provide medical advice. Osmosis from Elsevier and the content available on the Osmosis from Elsevier properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed healthcare provider. Always seek the advice of a physician or other qualified healthcare professional with any questions you have regarding a medical condition.
© 2024 Elsevier. All rights reserved.
- published: 23 Jun 2023
- views: 16039
30:36
Updates in Facioscapulohumeral Muscular Dystrophy (FSHD)
- Order: Reorder
- Duration: 30:36
- Uploaded Date: 18 Aug 2023
- views: 1236
This webinar featuring Rabi Tawil, MD, of the University of Rochester Medical Center, will provide an update on the facioscapulohumeral muscular dystrophy (FSHD...
This webinar featuring Rabi Tawil, MD, of the University of Rochester Medical Center, will provide an update on the facioscapulohumeral muscular dystrophy (FSHD) treatment landscape and briefly discuss the status of FSHD understanding, diagnosis, and research.
This webinar is supported in part by an independent educational grant from Fulcrum Therapeutics and Avidity Biosciences.
https://wn.com/Updates_In_Facioscapulohumeral_Muscular_Dystrophy_(Fshd)
This webinar featuring Rabi Tawil, MD, of the University of Rochester Medical Center, will provide an update on the facioscapulohumeral muscular dystrophy (FSHD) treatment landscape and briefly discuss the status of FSHD understanding, diagnosis, and research.
This webinar is supported in part by an independent educational grant from Fulcrum Therapeutics and Avidity Biosciences.
- published: 18 Aug 2023
- views: 1236
7:49
Introduction to Facioscapulohumeral Muscular Dystrophy (FSHD)
- Order: Reorder
- Duration: 7:49
- Uploaded Date: 13 Apr 2023
- views: 987
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms.
Today Dr. Tarnopo...
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms.
Today Dr. Tarnopolsky is discussing the fundamentals of FSHD and why exercise could be your secret weapon to improve your health-span.
We understand that FSHD can present unique challenges to maintaining an active lifestyle, so be sure to check out our specific exercise videos designed to guide you safely though your workouts and offer practical tips regardless of your ability level.
https://wn.com/Introduction_To_Facioscapulohumeral_Muscular_Dystrophy_(Fshd)
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms.
Today Dr. Tarnopolsky is discussing the fundamentals of FSHD and why exercise could be your secret weapon to improve your health-span.
We understand that FSHD can present unique challenges to maintaining an active lifestyle, so be sure to check out our specific exercise videos designed to guide you safely though your workouts and offer practical tips regardless of your ability level.
- published: 13 Apr 2023
- views: 987
2:16
Finding my FSH muscular dystrophy family
- Order: Reorder
- Duration: 2:16
- Uploaded Date: 11 Nov 2017
- views: 1084
After Katie was diagnosed with FSH muscular dystrophy, she found a new sense of purpose after she connected with others with facioscapulohumeral muscular dystro...
After Katie was diagnosed with FSH muscular dystrophy, she found a new sense of purpose after she connected with others with facioscapulohumeral muscular dystrophy. Here is her story. This video was produced by the Westminster High School Video Cinema Arts program in conjunction with CenterStage Films. Special thanks to Chris Williams.
https://wn.com/Finding_My_Fsh_Muscular_Dystrophy_Family
After Katie was diagnosed with FSH muscular dystrophy, she found a new sense of purpose after she connected with others with facioscapulohumeral muscular dystrophy. Here is her story. This video was produced by the Westminster High School Video Cinema Arts program in conjunction with CenterStage Films. Special thanks to Chris Williams.
- published: 11 Nov 2017
- views: 1084
1:54
Neuromuscular diseases: Facioscapulohumeral muscular dystrophy
- Order: Reorder
- Duration: 1:54
- Uploaded Date: 02 May 2015
- views: 3837
Bruce Hermesch, of Seneca, Kan., has facioscapulohumeral muscular dystrophy (FSHD), a disorder characterized by muscle weakness and atrophy. He can walk limited...
Bruce Hermesch, of Seneca, Kan., has facioscapulohumeral muscular dystrophy (FSHD), a disorder characterized by muscle weakness and atrophy. He can walk limited distances with the help of a cane but uses his power chair for longer distances. Video and Photos by: ALLISON LONG/along@kcstar.com
https://wn.com/Neuromuscular_Diseases_Facioscapulohumeral_Muscular_Dystrophy
Bruce Hermesch, of Seneca, Kan., has facioscapulohumeral muscular dystrophy (FSHD), a disorder characterized by muscle weakness and atrophy. He can walk limited distances with the help of a cane but uses his power chair for longer distances. Video and Photos by: ALLISON LONG/along@kcstar.com
- published: 02 May 2015
- views: 3837
7:24
Facioscapulohumeral muscular dystrophy
This video featuring people affected by facioscapulohumeral muscular dystrophy and special...
published: 24 Mar 2016
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy
- Report rights infringement
- published: 24 Mar 2016
- views: 15598
This video featuring people affected by facioscapulohumeral muscular dystrophy and specialist neuromuscular health professionals is an introduction to the main facets of facioscapulohumeral muscular dystrophy and the support that is available from Muscular Dystrophy UK.
3:43
FSH Muscular Dystrophy 101
This video explains the basic facts about facioscapulohumeral muscular dystrophy--the symp...
published: 29 Sep 2021
FSH Muscular Dystrophy 101
FSH Muscular Dystrophy 101
- Report rights infringement
- published: 29 Sep 2021
- views: 4465
This video explains the basic facts about facioscapulohumeral muscular dystrophy--the symptoms, how it affects those who have it, how it is inherited, and how many people are affected.
Thank you to Taylor Toole for compiling this video. Image and video credits: Romana Vysatova, Brent Rowlett, Randy Schafer, Ellen Feldman, and Martyn Kitney.
For more information and news about advances in treating FSHD, please visit fshdsociety.org
6:54
FSH Muscular Dystrophy
FSHD is one of the most common forms of muscular dystrophy. Learn more about this debilita...
published: 09 Feb 2014
FSH Muscular Dystrophy
FSH Muscular Dystrophy
- Report rights infringement
- published: 09 Feb 2014
- views: 59583
FSHD is one of the most common forms of muscular dystrophy. Learn more about this debilitating disease and listen to the stories of people affected by FSHD. Please visit our website for more information and to see how you can help us find a cure: http://www.fshdglobal.org
Donate now: http://bit.ly/SupportFSHDresearch
1:00:53
MDA Engage Facioscapulohumeral Muscular Dystrophy
published: 10 Nov 2021
MDA Engage Facioscapulohumeral Muscular Dystrophy
MDA Engage Facioscapulohumeral Muscular Dystrophy
- Report rights infringement
- published: 10 Nov 2021
- views: 3506
1:53
Facioscapulohumeral Muscular Dystrophy
Diego Cadavid, MD, of Fulcrum Therapeutics explains facioscapulohumeral muscular dystrophy...
published: 19 Jan 2020
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
- Report rights infringement
- published: 19 Jan 2020
- views: 1847
Diego Cadavid, MD, of Fulcrum Therapeutics explains facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy is a rare disabling disease characterized by progressive skeletal muscle loss. The disease generally begins with weakness in facial muscles but as the condition progresses, shoulders, arms and trunk, and eventually the rest of the body is affected. progresses to weakness throughout the lower body.
The condition is due to mutations in the DUX4 gene. Fulcrum Therapeutics has a phase II clinical trial currently underway to test the safety and efficacy of losmapimod, a mitogen-activated protein kinase (MAPK) inhibitor, in persons with facioscapulohumeral muscular dystrophy.
To learn more about this and other rare neuromuscular disorders, visit checkrare.com/diseases/musculoskeletal-diseases/
0:30
Facioscapulohumeral Muscular Dystrophy
What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy, or...
published: 23 Jun 2023
Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
- Report rights infringement
- published: 23 Jun 2023
- views: 16039
What is facioscapulohumeral muscular dystrophy? Facioscapulohumeral muscular dystrophy, or FSHD for short, is a genetic neuromuscular disorder that causes weakness in the muscles of the face, shoulder blades, and upper arms. FSHD is caused by the inherited abnormal expression of an gene called DUX4, which produces a protein that is toxic to muscle cells.
#shorts #rarediseases
Find our full video library only on Osmosis: http://osms.it/more.
Join millions of current and future clinicians who learn by Osmosis, along with hundreds of universities around the world who partner with Osmosis from Elseiver to make medical and health education more engaging and efficient. We have unparalleled tools and materials to prepare you for success in school, on your board exams, and as a future clinician. Sign up for a free trial at http://osms.it/more. If you're interested in exploring an institutional partnership, visit osmosis.org/educators to request a personalized demo.
Follow us on social:
Facebook: http://osms.it/facebook
Twitter: http://osms.it/twitter
Instagram for med: http://osms.it/instagram
Instagram for nursing: https://osms.it/ignursing
TikTok: https://osms.it/tiktok
Linkedin: https://osms.it/linkedin
Our Vision: Everyone who cares for someone will learn by Osmosis.
Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: http://osms.it/mission
Medical disclaimer: Osmosis from Elsevier does not provide medical advice. Osmosis from Elsevier and the content available on the Osmosis from Elsevier properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed healthcare provider. Always seek the advice of a physician or other qualified healthcare professional with any questions you have regarding a medical condition.
© 2024 Elsevier. All rights reserved.
30:36
Updates in Facioscapulohumeral Muscular Dystrophy (FSHD)
This webinar featuring Rabi Tawil, MD, of the University of Rochester Medical Center, will...
published: 18 Aug 2023
Updates in Facioscapulohumeral Muscular Dystrophy (FSHD)
Updates in Facioscapulohumeral Muscular Dystrophy (FSHD)
- Report rights infringement
- published: 18 Aug 2023
- views: 1236
This webinar featuring Rabi Tawil, MD, of the University of Rochester Medical Center, will provide an update on the facioscapulohumeral muscular dystrophy (FSHD) treatment landscape and briefly discuss the status of FSHD understanding, diagnosis, and research.
This webinar is supported in part by an independent educational grant from Fulcrum Therapeutics and Avidity Biosciences.
7:49
Introduction to Facioscapulohumeral Muscular Dystrophy (FSHD)
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that affects...
published: 13 Apr 2023
Introduction to Facioscapulohumeral Muscular Dystrophy (FSHD)
Introduction to Facioscapulohumeral Muscular Dystrophy (FSHD)
- Report rights infringement
- published: 13 Apr 2023
- views: 987
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy that affects the muscles of the face, shoulders, and upper arms.
Today Dr. Tarnopolsky is discussing the fundamentals of FSHD and why exercise could be your secret weapon to improve your health-span.
We understand that FSHD can present unique challenges to maintaining an active lifestyle, so be sure to check out our specific exercise videos designed to guide you safely though your workouts and offer practical tips regardless of your ability level.
2:16
Finding my FSH muscular dystrophy family
After Katie was diagnosed with FSH muscular dystrophy, she found a new sense of purpose af...
published: 11 Nov 2017
Finding my FSH muscular dystrophy family
Finding my FSH muscular dystrophy family
- Report rights infringement
- published: 11 Nov 2017
- views: 1084
After Katie was diagnosed with FSH muscular dystrophy, she found a new sense of purpose after she connected with others with facioscapulohumeral muscular dystrophy. Here is her story. This video was produced by the Westminster High School Video Cinema Arts program in conjunction with CenterStage Films. Special thanks to Chris Williams.
1:54
Neuromuscular diseases: Facioscapulohumeral muscular dystrophy
Bruce Hermesch, of Seneca, Kan., has facioscapulohumeral muscular dystrophy (FSHD), a diso...
published: 02 May 2015
Neuromuscular diseases: Facioscapulohumeral muscular dystrophy
Neuromuscular diseases: Facioscapulohumeral muscular dystrophy
- Report rights infringement
- published: 02 May 2015
- views: 3837
Bruce Hermesch, of Seneca, Kan., has facioscapulohumeral muscular dystrophy (FSHD), a disorder characterized by muscle weakness and atrophy. He can walk limited distances with the help of a cane but uses his power chair for longer distances. Video and Photos by: ALLISON LONG/along@kcstar.com
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHMD, FSHD or FSH)—originally named Landouzy-Dejerine—is a usually autosomal dominant inherited form of muscular dystrophy (MD) that initially affects the skeletal muscles of the face (facio), scapula (scapulo) and upper arms (humeral). FSHD is the third most common genetic disease of skeletal muscle. Orpha.net lists the prevalence as 4/100,000 while a 2014 population-based study in the Netherlands reported a significantly higher prevalence of 12 in 100,000.
Symptoms may develop in early childhood and are usually noticeable in the teenage years with 95% of affected individuals manifesting disease by age 20 years. A progressive skeletal muscle weakness usually develops in other areas of the body as well; often the weakness is asymmetrical. Life expectancy can be threatened by respiratory insufficiency and up to 20% of affected individuals become severely disabled requiring use of a wheel chair or mobility scooter. In a Dutch study approximately 1% of patients required (nocturnal or diurnal) ventilatory support. Non-muscular symptoms frequently associated with FSHD include subclinical sensorineural hearing loss and retinal telangiectasia. In more than 95% of known cases, the disease is associated with contraction of the D4Z4 repeat in the 4q35 subtelomeric region of Chromosome 4. Seminal research published in August 2010 now shows the disease requires a second mechanism, which for the first time provides a unifying theory for its underlying genetics. The second mechanism is a "toxic gain of function" of the DUX4 gene, which is the first time in genetic research that a "dead gene" has been found to "wake up" and cause disease.
This page contains text from Wikipedia, the Free Encyclopedia - https://wn.com/Facioscapulohumeral_muscular_dystrophy
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Urgent wait for treatments: The race against time in the fight against FSHD, a genetic ...
Food and Drug Administration has not yet approved any treatments to stop the progression or increase muscle mass in people with facioscapulohumeral muscular dystrophy (FSHD), a genetic disorder that weakens skeletal muscles.
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World FSHD Day resolution introduced on Capitol Hill
Christman, a retired attorney and board member of Trib Total Media, was diagnosed with facioscapulohumeral muscular dystrophy, or FSHD, in 1977 at age 16 ... While FSHD is primarily hereditary, 30 percent of people have no family history of it.
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Reps. Kelly, Dingell Introduce Resolution Honoring World FSHD Day (Mike Kelly)
Representatives Mike Kelly (R-PA) and Debbie Dingell (D-MI) introduced a bipartisan resolution honoring June 20, 2024, as World Facioscapulohumeral Muscular Dystrophy (FSHD) Day. FSHD is a genetic ...
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Avidity Biosciences Partners with the FSHD Society to Raise Awareness of Facioscapulohumeral Muscular Dystrophy on ...
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Dingell, Kelly Introduce Resolution Honoring World FSHD Day (Debbie Dingell)
) Representatives Debbie Dingell (D-MI) and Mike Kelly (R-PA) this week introduced a bipartisan resolution honoring June 20, 2024, as World Facioscapulohumeral Muscular Dystrophy (FSHD) Day. FSHD is a ...
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Avidity Biosciences Partners with the FSHD Society to Raise Awareness of Facioscapulohumeral Muscular Dystrophy on World FSHD Day
A recording of this webinar will be available on FSHD Society's FSHD University at a later date ... FSHD through World FSHD Day and to recognize patients and families worldwide who are affected by FSHD.
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Springbok Analytics Announces Phase 1 Clinical Trial Evaluating Clenbuterol as FSHD Treatment
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Dyne Therapeutics Presents New Preclinical Data for its Facioscapulohumeral Muscular Dystrophy Program During the FSHD ...
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Fulcrum Therapeutics to Present at the 31st Annual FSHD Society International Research Congress
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Avidity Biosciences to Present Preliminary Data from Phase 1/2 FORTITUDE™ Trial of AOC 1020 in People Living with Facioscapulohumeral Muscular Dystrophy at 31st Annual FSHD Society International Research Congress
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- Across robust slate of presentations, company highlights compelling new data and strong differentiation -. - Across robust slate of presentations, company highlights compelling new data and strong differentiation - ... .
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