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Facioscapulohumeral dystrophy (FSHD)

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchOnly the strongest evidence (27)Meta-analysis (5)Treatment guideline (1)Systematic review (11)Randomized trial (8)Phase 3 study (2)Clinical trial (105)Review article (127)Early study (phase 1 or 2) (12)Single patient description (76)Laboratory or animal study (29)Commentary or editorial (40) Only studies currently recruiting participants (28)

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Publications and studies (978)

• Comparative Analysis of Splicing Alterations in Three Muscular Dystrophies. (2025/03/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now? (2025/03/01) ♡
• Multi-scale machine learning model predicts muscle and functional disease progression in FSHD. (2025/02/20) ♡
• The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping. (2025/02/11) ♡
• Utility of Optical Genome Mapping in Repeat Disorders. (2025/02/01) ♡
• Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset Facioscapulohumeral muscular dystrophy type 1. (2025/01/30) ♡
• Longitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study. (2025/01/14) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report. (2025/01/07) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges. (2025/01/01) ♡
• Bioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy. (2025/01/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Muscular dystrophy as a cause of unilateral scapular winging. (2025/01/01) ♡
• A 5-year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials. (2025/01/01) ♡
• Respiratory function and evaluation in individuals with facioscapulohumeral muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network. (2025/01/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Muscular Dystrophies. (2025/01/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Safety and Preliminary Efficacy of ULSC in Facioscapulohumeral Muscular Dystrophy (FSHD) (2025-12-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder (2025-12-03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study (2025-12-03) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Evaluation of Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments of Losmapimod for FSHD1 With Extension (2025-12-02) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Biomarker Development for Muscular Dystrophies (2025-11-24) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Efficacy and Safety of Losmapimod in Treating Participants With Facioscapulohumeral Muscular Dystrophy (FSHD) (REACH) (2025-11-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry (2025-10-15) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) With Open-Label Extension (OLE) (2025-09-30) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. ADVANCED FSHD-COM: New Clinical Outcome Measures to Evaluate Non-ambulant FSHD Patients, a Pilot Study (2025-09-25) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. FSHD Molecular Characterization (2025-09-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders (2025-09-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Imaging and Gait Analysis in FSHD Patients (2025-09-10) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology (2025-08-22) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period. (2025-07-18) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study (2025-05-20) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence (2025-04-08) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Ten Year Follow-up in FSHD: the FOCUS 3 Study (2025-04-04) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Evaluate the Efficacy and Safety of Satralizumab in FSHD1 (2025-03-26) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Routine Health Care of Patients With FSHD (2025-02-21) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation (2025-01-13) ♡
• AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot. (2024/12/27) ♡
• Sustained efficacy of CRISPR-Cas13b gene therapy for FSHD is challenged by immune response to Cas13b. (2024/12/19) ♡
• Bilateral foot drop as presenting feature of facioscapulohumeral muscular dystrophy type 1. (2024/12/13) ♡
• SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy. (2024/12/03) ♡
• Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study. (2024/12/01) ♡
• Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy. (2024/12/01) ♡
• Identification of disease-specific extracellular vesicle-associated plasma protein biomarkers for Duchenne Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy. (2024/11/30) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing. (2024/11/25) ♡
• Lrif1 modulates Trim28-mediated repression of the Dux locus in mouse embryonic stem cells. (2024/11/18) ♡
• Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function. (2024/11/16) ♡
• Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy. (2024/11/02) ♡
• The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound. (2024/11/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Hereditary Neuromuscular Disorders in Reproductive Medicine. (2024/10/30) ♡
• Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice. (2024/10/23) ♡
• Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients. (2024/10/22) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders. (2024/10/11) ♡

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