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51 results for “Facioscapulohumeral Muscular Dystrophy”
Kinematics and timed function tests of facioscapulohumeral muscular dystrophy and myotonic dystrophy
<p>This dataset contains <a href="https://www.opencap.ai/">OpenCap</a> kinematics (body position and joint angles), clinician-scored timed function tests (TFTs), and extracted biomechanical metrics for 129 individuals:</p> <ul> <li> <p>28 participants with facioscapulohumeral muscular dystrophy (FSHD)</p> </li> <li> <p>58 participants with myotonic dystrophy (DM)</p> </li> <li> <p>43 participants with typical movement</p> </li> </ul> <p>For more details, please see the accompanying paper (in submission):</p> <blockquote> <p><strong>Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases</strong></p> <p>Parker S. Ruth*, Scott D. Uhlrich*, Constance de Monts, Antoine Falisse, Julie Muccini, Sydney Covitz, Shelby Vogt-Domke, John Day, Tina Duong,† Scott Delp†</p> <p>*Contributed equally, †Contributed equally</p> </blockquote>
Efficacy and Safety of Losmapimod in Treating Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH)
ClinicalTrials.gov study NCT05397470. IPD Sharing: YES. Countries: 9. Publications: 4.
Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE)
ClinicalTrials.gov study NCT04264442. IPD Sharing: NO. Countries: 4. Publications: 7.
Efficacy and Safety of Losmapimod in Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT04003974. IPD Sharing: NO. Countries: 4. Publications: 9.
High Intensity Training in Patients With Facioscapulohumeral Muscular Dystrophy
ClinicalTrials.gov study NCT02159963. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Examination of Operative Approach in pwFSHD (Patient With Facioscapulohumeral Muscular Dystrophy)
ClinicalTrials.gov study NCT05022355. IPD Sharing: Not stated. Countries: 1. Publications: 14.
1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy
ClinicalTrials.gov study NCT02159612. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Effects Antioxidants Supplementation on Muscular Function Patients Facioscapulohumeral Dystrophy (FSHD)
ClinicalTrials.gov study NCT01596803. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
ClinicalTrials.gov study NCT01671865. IPD Sharing: NO. Countries: 1. Publications: 3.
Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy
ClinicalTrials.gov study NCT06517498. IPD Sharing: NO. Countries: 1. Publications: 0.
Electrostimulation of Shoulder Girdle and Quadriceps Muscles in Facioscapulohumeral Muscular Dystrophy Patients
ClinicalTrials.gov study NCT00821548. IPD Sharing: Not stated. Countries: 1. Publications: 1.
The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry
ClinicalTrials.gov study NCT04001582. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Pro-inflammatory Cytokines in Facioscapulohumeral Muscular Dystrophy (CYTOKINE-FSH)
ClinicalTrials.gov study NCT04694456. IPD Sharing: NO. Countries: 1. Publications: 0.
Data from: A homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
<p><b>Objective:</b> Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder predominantly characterized by progressive facial and scapular muscle weakness. FSHD patients either have a contraction of the D4Z4 repeat on chromosome 4q35 or mutations in D4Z4 chromatin modifiers SMCHD1 and DNMT3B, both causing D4Z4 chromatin relaxation and inappropriate expression of the D4Z4-encoded <i>DUX4</i> gene in skeletal muscle. In this study we tested the hypothesis if LRIF1, a known SMCHD1 protein interactor, is a disease gene for idiopathic FSHD2. </p> <p><b>Methods:</b> Clinical examination of an idiopathic FSHD2 patient was combined with pathological muscle biopsy examination and with genetic, epigenetic and molecular studies.</p> <p><b>Results:</b> A homozygous <i>LRIF1</i> mutation was identified in a patient with a clinical phenotype consistent with FSHD. This mutation resulted in the absence of the long isoform of LRIF1 protein, D4Z4 chromatin relaxation, and <i>DUX4</i> and DUX4 target gene expression in myonuclei, all molecular and epigenetic hallmarks of FSHD. In concordance, LRIF1 was shown to bind to the D4Z4 repeat and knock down of the LRIF1 long isoform in muscle cells results in <i>DUX4</i> and DUX4 target gene expression.</p> <p><b>Conclusions:</b> <i>LRIF1</i> is a bona fide disease gene for FSHD2. This study further reinforces the unifying genetic mechanism which postulates that FSHD is caused by D4Z4 chromatin relaxation resulting in inappropriate <i>DUX4</i> expression in skeletal muscle.</p>
Data from: Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy
Objective: To investigate single muscle fiber contractile performance in muscle biopsies from patients with facioscapulohumeral muscular dystrophy, one of the most common hereditary muscle disorders. Methods: we collected 26 vastus lateralis and 24 tibialis anterior muscle biopsies from 14 genetically confirmed FSHD patients and 12 healthy controls. Single muscle fibers (N = 547) were isolated for contractile measurements. Titin content and PEVK phosphorylation were examined in vastus lateralis muscle biopsies. Results: Single muscle fiber specific force is intact at saturating and physiological calcium concentrations in all FSHD biopsies, with (FSHDFAT) and without (FSHDNORMAL) fatty infiltration. Myofilament calcium sensitivity of force is increased in single muscle fibers obtained from FSHD muscle biopsies with increased fatty infiltration, but not in FSHD muscle biopsies without fatty infiltration (pCa50: 5.77-5.80 in healthy control, 5.74-5.83 in FSHDNORMAL and 5.86-5.90 in FSHDFAT single muscle fibers). Cross-bridge cycling kinetics at saturating calcium concentrations and myofilament cooperativity did not differ from healthy controls. Passive force was increased in all FSHD muscle fibers, resulting in increased fiber stiffness. Titin content was increased in FSHD biopsies, however titin phosphorylation did not differ from healthy controls. Conclusion: Muscle weakness in patients with FSHD is not caused by reduced specific force of individual muscle fibers, even in severely affected tissue. Muscle fiber calcium sensitivity of force was increased in severely affected tissue and probably is a compensatory mechanism to maintain specific force. Fiber stiffness was increased in FSHD muscle with and without fatty infiltration, suggesting an early event in disease pathology.
Data from: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Objective: An observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype–genotype correlations. Methods: Ten FSHD1 probands carrying 4–9 D4Z4 unit alleles and 140 relatives were examined. All 150 participants were genetically characterized, including D4Z4 methylation levels in the mutation carriers. Mutation carriers were classified as (1) symptomatic: with symptoms of muscle weakness on history and muscle FSHD signs on examination; (2) asymptomatic: without symptoms of muscle weakness but with muscle FSHD signs on examination; and (3) nonpenetrant: without symptoms of muscle weakness on history and without muscle FSHD signs on examination. We assessed the relationship between age-corrected clinical severity score and repeat size, sex, and D4Z4 methylation levels. Results: The maximum likelihood estimates of symptomatic and those of symptomatic plus asymptomatic FSHD showed that penetrance depends on repeat size and increases until late adulthood. We observed many asymptomatic carriers with subtle facial weakness with or without mild shoulder girdle weakness (25% [17/69]). Nonpenetrance was observed less frequently than in recent population studies (17% [12/69]), and most asymptomatic patients reported some shoulder pain. D4Z4 methylation tended to be lower in moderately to severely affected mutation carriers with 7 or 9 repeats. Discussion: This family-based study detected a lower overall nonpenetrance than previously observed, probably due to many asymptomatic mutation carriers identified by careful examination of facial and shoulder muscles. The recognition of asymptomatic mutation carriers is essential for selection of participants for future trials, and the likelihood estimates are helpful in counseling.
Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT02927080. IPD Sharing: Not stated. Countries: 3. Publications: 0.
Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD)
ClinicalTrials.gov study NCT02836418. IPD Sharing: NO. Countries: 3. Publications: 0.
Bone Health in Facioscapulohumeral Muscular Dystrophy
ClinicalTrials.gov study NCT02413190. IPD Sharing: NO. Countries: 2. Publications: 0.
Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
ClinicalTrials.gov study NCT03943290. IPD Sharing: Not stated. Countries: 3. Publications: 0.
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