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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Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently iden...
Source: Skeletal Muscle - Category: Research Authors: Tags: Research Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) causes progressive muscle wasting triggered by aberrant de-repression of DUX4, a pro-apoptotic transcription factor, in
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) is caused by loss of repression at the D4Z4 locus resulting in aberrant expression of the homeobox transcription factor DUX4. DUX4 expression activates its downstream transcriptional program resulting in cell death, skeletal muscle loss and progressive motor disability. Fulcrum Therapeutics is developing losmapimod to treat FSHD at its root cause. Losmapimod is a potent and highly selective small molecule inhibitor of p38 α/β that in preclinical studies reduced DUX4 activity and its downstream transcriptional program in FSHD myotubes resulting in the prevention of ce...
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of the transcription factor DUX4 from the 4q D4Z4 macrosatellite repeat in skeletal muscle. This is a result of the loss of repressive epigenetic landscape at the repeat either due to repeat contraction (FSHD1) or due to mutations in D4Z4-chromatin associated proteins (FSHD2). While both genetic situations lead to FSHD, a characteristic difference between FSHD1 and FSHD2 is the genome-wide D4Z4 hypomethylation in FSHD2, whereas in FSHD1, D4Z4 hypomethylation is restricted to the contracted allele.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Purpose of review Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder, which is caused by incomplete repression of the transcription factor double homeobox 4 (DUX4) in skeletal muscle. To date, there is no DUX4-targeting treatment to prevent or delay disease progression. In the present review, we summarize developments in therapeutic strategies with the focus on inhibiting DUX4 and DUX4 target gene expression. Recent findings Different studies show that DUX4 and its target genes can be repressed with genetic therapies using diverse strategies. Additionally, different small compounds can reduce DU...
Source: Current Opinion in Neurology - Category: Neurology Tags: MUSCULAR DISEASE: Edited by John Vissing Source Type: research
MEDICAL SCIENCES Correction for “Inhibition of DUX4 expression with antisense LNA gapmers as a therapy for facioscapulohumeral muscular dystrophy,” by Kenji Rowel Q. Lim, Rika Maruyama, Yusuke Echigoya, Quynh Nguyen, Aiping Zhang, Hunain Khawaja, Sreetama Sen Chandra, Takako Jones, Peter Jones, Yi-Wen Chen, and Toshifumi Yokota, which was first published...
Source: Proceedings of the National Academy of Sciences - Category: Science Tags: Corrections Source Type: research
BackgroundSarcopenic obesity has been observed in people with neuromuscular impairment, and is linked to adverse health outcomes. It is unclear, however, if sarcopenic obesity develops in adults with facioscapulohumeral muscular dystrophy (FSHD).MethodsThe purpose of this study was to determine if adults with FSHD meet criteria for sarcopenic obesity (appendicular lean mass index (ALMI) scores of
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Abstract The structural maintenance of chromosomes hinge domain containing protein 1 (SMCHD1) is a large multidomain protein involved in epigenetic gene silencing. Variations in the SMCHD1 gene are associated with two debilitating human disorders, facioscapulohumeral muscular dystrophy (FSHD) and Bosma arhinia microphthalmia syndrome (BAMS). Failure of SMCHD1 to silence the D4Z4 macro-repeat array causes FSHD, yet the consequences on gene silencing of SMCHD1 variations associated with BAMS are currently unknown. Despite the interest due to these roles, our understanding of the SMCHD1 protein is in its infancy. Mos...
Source: Biochemical Society Transactions - Category: Biochemistry Authors: Tags: Biochem Soc Trans Source Type: research
We present 6 cases to illustrate both clinical and genetic diagnostic challenges in facioscapulohumeral muscular dystrophy and provide examples on how to navigate the different steps of genetic testing.
Source: Neurologic Clinics - Category: Neurology Authors: Source Type: research
Facioscapulohumeral muscular dystrophy (FSHD), characterized by progressive muscle weakness and deterioration, is genetically linked to aberrant expression of DUX4 in muscle. DUX4, in its full-length form, is cytotoxic in nongermline tissues. Here, we designed locked nucleic acid (LNA) gapmer antisense oligonucleotides (AOs) to knock down DUX4 in immortalized FSHD myoblasts...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
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