Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy: A randomized controlled trial

Conclusions: A combined strength and interval cycling exercise-training program compatible with patients’ daily professional and social activities leads to significant functional benefits without compromising muscle tissue.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Trial/Experimental Study Source Type: research

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(University of Alberta Faculty of Medicine&Dentistry) Researchers have designed a potential new treatment for one of the most common forms of muscular dystrophy, according to a new study published today in the Proceedings of the National Academy of Sciences. Toshifumi Yokota, professor of medical genetics at the University of Alberta, led a team from Canada and the U.S. to create and test synthetic DNA-like molecules that interfere with the production of a toxic protein that destroys the muscles of people who have facioscapulohumeral muscular dystrophy (FSHD).
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
FSHD Society holds externally led Patient-Focused Drug Development Meeting on FSH muscular dystrophy(PRWeb June 29, 2020)Read the full story at https://www.prweb.com/releases/facioscapulohumeral_muscular_dystrophy_community_speaks_to_the_fda/prweb17220588.htm
Source: PRWeb: Medical Pharmaceuticals - Category: Pharmaceuticals Source Type: news
Abstract Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is an epigenetic regulator in which polymorphisms cause the human developmental disorder, Bosma arhinia micropthalmia syndrome, and the degenerative disease, facioscapulohumeral muscular dystrophy. SMCHD1 is considered a noncanonical SMC family member because its hinge domain is C-terminal, because it homodimerizes rather than heterodimerizes, and because SMCHD1 contains a GHKL-type, rather than an ABC-type ATPase domain at its N terminus. The hinge domain has been previously implicated in chromatin association; however, the...
Source: Science Signaling - Category: Biomedical Science Authors: Tags: Sci Signal Source Type: research
Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) is an epigenetic regulator in which polymorphisms cause the human developmental disorder, Bosma arhinia micropthalmia syndrome, and the degenerative disease, facioscapulohumeral muscular dystrophy. SMCHD1 is considered a noncanonical SMC family member because its hinge domain is C-terminal, because it homodimerizes rather than heterodimerizes, and because SMCHD1 contains a GHKL-type, rather than an ABC-type ATPase domain at its N terminus. The hinge domain has been previously implicated in chromatin association; however, the underlying mechan...
Source: Signal Transduction Knowledge Environment - Category: Science Authors: Tags: STKE Research Articles Source Type: news
Some muscular dystrophies may have a negative impact on fertility. A decreased ovarian reserve is 1 of the factors assumed to be involved in fertility impairment. AMH (anti-Müllerian hormone) is currently considered the best measure of ovarian reserve. A total of 21 females with myotonic dystrophy type 1 (MD1), 25 females with myotonic dystrophy type 2 (MD2), 12 females with facioscapulohumeral muscular dystrophy (FSHD), 12 female carriers of Duchenne muscular dystrophy mutations (cDMD) and 86 age-matched healthy controls of reproductive age (range 18 – 44 years) were included in this case control study. An enz...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Observational Study Source Type: research
Publication date: Available online 24 May 2020Source: EXPLOREAuthor(s): HongJuan Li, Haoming Huang, Wenjie Long, Junling Zuo, Hongqiang Huang
Source: EXPLORE: The Journal of Science and Healing - Category: Complementary Medicine Source Type: research
Abstract Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. These cases open novel and unexpected interpretation of genetic findings. The nonrandom association of both FSHD and WBS points at a gene co-expression network...
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
Condition:   Muscular Dystrophy, Facioscapulohumeral Intervention:   Other: Video recording Sponsor:   Centre Hospitalier Universitaire de Nice Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Facioscapulohumeral Muscular Dystrophy (FSHD) Intervention:   Sponsor:   Ning Wang, MD., PhD. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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