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590 results for “muscular dystrophies.”
Data from: Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function
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Data from: Cardiac dysfunction in Duchenne muscular dystrophy is less frequent in patients with mutations in the dystrophin Dp116 coding region than in other regions
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Data from: Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy
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Data from: Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints
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Data from: Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
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Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with rAAVrh74.MCK.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength
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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: Discovery of metabolic biomarkers for Duchenne Muscular Dystrophy within a natural history study
Serum metabolite profiling in Duchenne muscular dystrophy (DMD) may enable discovery of valuable molecular markers for disease progression and treatment response. Serum samples from 51 DMD patients from a natural history study and 22 age-matched healthy volunteers were profiled using liquid chromatography coupled to mass spectrometry (LC-MS) for discovery of novel circulating serum metabolites associated with DMD. Fourteen metabolites were found significantly altered (1% false discovery rate) in their levels between DMD patients and healthy controls while adjusting for age and study site and allowing for an interaction between disease status and age. Increased metabolites included arginine, creatine and unknown compounds at m/z of 357 and 312 while decreased metabolites included creatinine, androgen derivatives and other unknown yet to be identified compounds. Furthermore, the creatine to creatinine ratio is significantly associated with disease progression in DMD patients. This ratio sharply increased with age in DMD patients while it decreased with age in healthy controls. Overall, this study yielded promising metabolic signatures that could prove useful to monitor DMD disease progression and response to therapies in the future.
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.
emery dreifuss muscular dystrophy
<p>muscular contractures and atrophy</p>
Studying Skeletal Muscle, Heart, and Diaphragm Imaging in Boys With Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT01451281. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Safety, Tolerability, Pharmacokinetics, and Biological Activity of ATYR1940 in Adult Participants With Muscular Dystrophy
ClinicalTrials.gov study NCT02239224. IPD Sharing: NO. Countries: 4. Publications: 0.
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
ClinicalTrials.gov study NCT03796637. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Study of EDG-5506 in Adult Males With Becker Muscular Dystrophy
ClinicalTrials.gov study NCT05160415. IPD Sharing: NO. Countries: 1. Publications: 0.
Safety Tolerability and Efficacy Study of Cabaletta to Treat Oculopharyngeal Muscular Dystrophy (OPMD) Patients
ClinicalTrials.gov study NCT02015481. IPD Sharing: Not stated. Countries: 3. Publications: 0.
An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT03532542. IPD Sharing: Not stated. Countries: 13. Publications: 0.
Safety, Tolerability, Pharmacokinetics (PK), and Activity of ATYR1940 in Participants With Muscular Dystrophy - Study Extension
ClinicalTrials.gov study NCT02531217. IPD Sharing: Not stated. Countries: 3. Publications: 0.
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT02420379. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Effects of Low-level Mechanical Vibration on Bone Density in Ambulant Children Affected by Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT05281120. IPD Sharing: NO. Countries: 0. Publications: 25.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
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DANDI Archive for NWB datasets
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International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.