Uma doença genética que é transmitida de pais para filhos e afeta os músculos do rosto, da omoplata e do braço. As pessoas com essa condição apresentam fraqueza muscular nessas áreas do corpo. Com o tempo, essa fraqueza pode se espalhar para outros músculos também.
Introdução
O que você precisa saber de cara
Uma doença genética que é transmitida de pais para filhos e afeta os músculos do rosto, da omoplata e do braço. As pessoas com essa condição apresentam fraqueza muscular nessas áreas do corpo. Com o tempo, essa fraqueza pode se espalhar para outros músculos também.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BOR
Nucleus
Immunodeficiency-centromeric instability-facial anomalies syndrome 1
A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211). Also required for silencing of the DUX4 locus in somatic cells (PubMed:32467133)
ChromosomeNucleus matrix
Facioscapulohumeral muscular dystrophy 3, digenic
A form of facioscapulohumeral muscular dystrophy, a degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. FSHD3 is a digenic form characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs. Muscle involvement is usually asymmetric, and other muscle groups may become involved with progression of the disease.
Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (PubMed:28459454, PubMed:28459457, PubMed:29572508, PubMed:30315230, PubMed:30540931). Binds to chromatin containing histone H3 acetylated at 'Lys-27' (H3K27ac) and promotes deacetylation of H3K27ac. In parallel, binds to chromatin that lacks histone H3 acetylation at 'Lys-27' (H3K27ac) and recruits EP3
NucleusCytoplasm
Facioscapulohumeral muscular dystrophy 1
A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist
Chromosome
Facioscapulohumeral muscular dystrophy 2, digenic
A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B
Nucleus, Cajal bodyNucleus, nucleolusCytoplasmCytoplasm, myofibril, sarcomere, Z line
Facioscapulohumeral muscular dystrophy 1
A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
Variantes genéticas (ClinVar)
109 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Distrofia facioescapuloumeral
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
15 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability.
Statins are widely prescribed lipid-lowering agents, but their safety and tolerability in patients with underlying genetic myopathies remain uncertain. We aimed to study statin safety and tolerability in genetic myopathies using a large retrospective cohort. We conducted a retrospective study in patients with myotonic dystrophy type 1 (DM1) and type 2 (DM2), facioscapulohumeral dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), and metabolic or mitochondrial myopathies who were exposed to statins. We included 135 patients (36 with DM1, 46 with DM2, 22 with FSHD, 6 with LGMD, 17 with mitochondrial myopathy, 6 with glycogenosis, and 2 with disorders of fatty acid oxidation or carnitine transport). A total of 44 patients discontinued statins, most often for statin-associated muscle symptoms (SAMS; n = 20). SAMS occurred in 36 of 135 patients (26.67%; 8 with DM1, 10 with DM2, 7 with FSHD, 3 with LGMD, 4 with mitochondrial myopathy, and 4 with metabolic myopathy). Myalgias were the most frequent SAMS (n = 29). Rhabdomyolysis occurred in 4 patients (1 with mitochondrial myopathy and 3 with McArdle disease). Statins unmasked myopathy in 6 of 36 patients. No patient developed immune-mediated necrotizing myopathy. SAMS are generally mild and occur at a frequency similar to the general population in common genetic myopathies, except increased rhabdomyolysis in mitochondrial myopathies and McArdle disease. Statins are generally safe, though not well tolerated, and could be used when closely monitored in several genetic myopathies. In mitochondrial and metabolic myopathies, their use should be approached with caution because of the potential risk of rhabdomyolysis.
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.
Facioscapulohumeral dystrophy (FSHD) is primarily associated with contraction of the D4Z4 macrosatellite array at the 4q35 locus. While unaffected individuals carry 11 to 150 D4Z4 repeats, approximately 95% of FSHD patients (FSHD1) exhibit a contraction to 1-10 units, along with reduced DNA methylation. In another ∼3% of patients (FSHD2), the disease results from a digenic mechanism associated with the presence of a pathogenic variant in the SMCHD1 gene, leading to the epigenetic deregulation of the 4q35 locus. However, 1-2% of clinically diagnosed patients lack a defined genetic cause, highlighting diagnostic gaps. In prior work, we identified over 70 patients, clinically diagnosed with FSHD and carrying a complex structural variant of the 4q35 or 10q26 loci. A potential pathogenicity of these structural variants was evoked in some cases, in the absence of other FSHD-associated genetic features. Given their diagnostic relevance, we performed here detailed structural analyses of these rearrangements, in 7 representative cases carrying different structural variants of the 4q35 or 10q26 loci using high-resolution long-read sequencing technologies (Oxford Nanopore and PacBio) and suspected of FSHD. By comparing the advantages and limitations of several methodological long read sequencing strategies, we resolved the architecture and methylation patterns across the 4q35 and 10q26 loci at the nucleotide-level. We show that duplicated alleles arise from intrachromosomal recombination between LSau elements contained within D4Z4 and distal subtelomeric β-satellite elements, producing variable deletions within the proximal D4Z4 region, with breakpoints differing among patients. These complex structural variants are not detectable using standard technologies like Bionano Optical Genome Mapping and require manual curation for identification during routine molecular diagnosis procedures. Importantly, determining the pathogenic relevance of these rearrangements necessitates integrating structural and epigenetic features typically associated with FSHD. Our results underscore the importance of in-depth molecular characterization for patients with clinical FSHD who test negative for FSHD1/FSHD2 by conventional diagnosis methods. We further show that structural variants might be considered as likely pathogenic, in the absence of SMCHD1 variant. Overall, as structural variants at 4q35 are increasingly identified in patients clinically diagnosed with FSHD, their comprehensive analysis is crucial to refine diagnosis, guide genetic counseling, and ultimately improve clinical care for individuals clinically suspected of FSHD but presenting an atypical molecular profile.
Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature.
Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well-known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co-occurrence of MG with FSHD is the most common, representing a non-negligible "double trouble". Here, we aim to describe a series of patients with coexistence of these two rare disorders and combine this with a review of the literature to identify common elements which might provide useful clues when evaluating a FSHD patient with uncommon clinical presentation compatible with MG. We retrospectively collected demographic, clinical, and laboratory data of patients affected by both FSHD and MG followed at the Nice University Center, and we performed a review of the literature. We identified 10 patients in our cohort, 7 females. All patients have a D4Z4 4qA allele of 7-10 RU, a disease onset > 45 years and a mean FSHD score of 9.6 ± 2 at the last evaluation. The mean age of onset of MG was 68.5 ± 7.6 years; all patients presented with anti-AChR antibodies and without thymic pathology, and MG appeared in all but two patients after FSHD. We identified 9 case reports in the literature. All of them presented with AChR positivity. The majority of them presented with a late and very late onset MG and without thymic pathology. Our results underline the need for careful clinical evaluation to identify uncommon features, especially in elderly FSHD patients carrying a D4Z4 4qA allele of 7-10 RU to exclude the coexistence of other treatable neuromuscular conditions.
Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is caused by aberrant expression of the double homeobox transcription factor DUX4 in skeletal muscle. Because direct measurement of DUX4 in FSHD muscle is technically challenging, DUX4-regulated transcripts in muscle biopsies have been used as surrogates; however, this approach is invasive, limited to a single muscle, and less suitable for repeated monitoring. Thus, we sought to identify DUX4-regulated circulating biomarkers that could integrate DUX4 activity across all affected muscles and enable more frequent measurement. We performed mass spectrometry on conditioned media from DUX4-inducible immortalized human myoblasts (MB135iDUX4) and identified a top candidate-KHDC1L, the protein product of a DUX4-regulated mRNA previously shown to correlate with DUX4 expression in muscle. Western blotting confirmed KHDC1L release into the supernatant of DUX4-expressing cells. Plasma profiling demonstrated elevated KHDC1L levels in individuals with FSHD compared to healthy controls, supporting its role as a circulating readout of DUX4 activity. These findings suggest that plasma KHDC1L is a potential pharmacodynamic marker of DUX4 activity, providing a minimally invasive tool for disease monitoring and a potential response marker to evaluate emerging FSHD therapies.
Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin-6 (IL-6) has been proposed as a candidate biomarker, but longitudinal validation is limited. We analyzed pooled data from two prospective longitudinal cohorts: CTRN-FSHD France (NCT04038138) and Cytokine FSHD (NCT04694456), each comprising 30 genetically confirmed ambulant FSHD1 patients. Serum IL-6 levels and clinical assessments were collected at baseline (M0), 12 months (M12), and 18 months (M18); whole-body muscle MRI (T1-weighted and STIR sequences) was obtained at M0 and M12. Associations between IL-6 levels and clinical severity scores, functional measures, and MRI-derived muscle composition were evaluated. Serum IL-6 levels correlated significantly with clinical severity metrics, including Clinical Severity Score, 6-Minute Walk Test, Manual Muscle Testing, and Motor Function Measure Domain 1 at all time points. Higher IL-6 levels were associated with increased muscle fat infiltration and free water content compatible with muscle edema on MRI. Longitudinal analyses showed that increases in IL-6 over 12 months were significantly correlated with changes in T1 (fat infiltration) and STIR (muscle edema) composite scores, reflecting structural and inflammatory disease progression. These findings validate IL-6 as a biomarker of FSHD1 severity and underscore its potential as an activity and progression biomarker. The correlation between IL-6, clinical scores, and MRI-based muscle composition changes highlights its potential utility for monitoring disease evolution and evaluating therapeutic responses in FSHD1 patients.
Publicações recentes
KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity.
Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review.
Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent.
Co-contraction of shoulder and upper extremity muscles in individuals with muscle dystrophy compared to healthy persons during reaching-to-target tasks.
A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy.
📚 EuropePMC206 artigos no totalmostrando 197
A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy.
JSES reviews, reports, and techniquesFraming childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials.
Neuromuscular disorders : NMDOverview of facioscapulohumeral dystrophy clinical features and diagnostic pathway.
Neuromuscular disorders : NMDStatins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability.
Neurology. Clinical practiceBenchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.
Brain : a journal of neurologyRole of Cardiovascular Magnetic Resonance in Diagnosis and Management of Muscular Dystrophies.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic ResonanceFacioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort.
Neuromuscular disorders : NMDCo-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature.
European journal of neurologyChemical inhibition of SUMOylation activates the FSHD locus.
Scientific reportsIdentification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy.
Human molecular geneticsDorsal Claviculectomy For Treatment Of Brachial Plexus Injury After Scapulothoracic Fusion: A Case Report And Literature Review.
Journal of orthopaedic case reportsAdaptive response to electrical pulse stimulation is impaired in FSHD myotubes by DUX4 gene network activation.
Scientific reports279th ENMC international workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024.
Neuromuscular disorders : NMDInterleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.
Annals of clinical and translational neurologyReviewer Comment on Hangul et al. "Gut Microbiota and Short-Chain Fatty Acid Profiles in Facioscapulohumeral Dystrophy: Associations with Epigenetic Alterations".
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesBroadening the Comorbidity Landscape in Facioscapulohumeral Dystrophy: Beyond the Usual Suspects.
Muscle & nerveHuman Umbilical Vein Endothelial Cells Express the DUX4 Protein: A Basis for Further Vascular Research.
Turk patoloji dergisiEffects of a Combined Nutritional and Physical Training Program Approach in a Case of Facioscapulohumeral Dystrophy: A One-Year Follow-Up.
Case reports in medicinePrevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.
Orphanet journal of rare diseasesGut Microbiota and Short-Chain Fatty Acid Profiles in Facioscapulohumeral Dystrophy: Associations with Epigenetic Alterations.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesEpigenetic regulation of DUX4: From embryogenesis to muscular degeneration.
Current opinion in cell biologyFacioscapulohumeral muscular dystrophy manifestations in the hand: A case report.
Hand surgery & rehabilitationOutcomes of scapulothoracic fusion using nonabsorbable cerclage tape fixation.
Journal of shoulder and elbow surgeryEstrogen rescues muscle regeneration impaired by DUX4 in a humanized xenograft mouse model.
Cell death & diseaseA discrete region of the D4Z4 is sufficient to initiate epigenetic silencing.
Human molecular geneticsPreimplantation genetic testing for facioscapulohumeral dystrophy caused by contractions of 4q35 D4Z4 repeats.
Reproductive biomedicine onlineUnraveling the link between resting metabolic rate and phase angle in facioscapulohumeral dystrophy: a comparative and associative analysis.
European journal of applied physiologyDUX4 activates common and context-specific intergenic transcripts and isoforms.
Science advancesState-of-the-Art and Future Challenges for Nutritional Interventions in Facioscapulohumeral Dystrophy: A Narrative Review.
NutrientsDeciphering Muscular Dynamics: A Dual-Attention Framework for Predicting Muscle Contraction From Activation Patterns.
IEEE journal of biomedical and health informaticsTransposon expression and repression in skeletal muscle.
Mobile DNADeciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now?
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologySarcolemmal dysfunction in facioscapulohumeral dystrophy: An assessment using muscle velocity recovery cycles.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyAnalysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study.
Health science reportsDouble trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
European journal of human genetics : EJHGSMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
European journal of human genetics : EJHGLongitudinal Insights Into Childhood Onset Facioscapulohumeral Dystrophy: A 5-Year Natural History Study.
NeurologyGenetic diagnosis of facioscapulohumeral muscular dystrophy type 1 using rare-variant linkage analysis and long-read genome sequencing.
Genetics in medicine openMuscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle Function.
Antioxidants (Basel, Switzerland)Molecular, Histological, and Functional Changes in Acta1-MCM;FLExDUX4/+ Mice.
International journal of molecular sciencesIntegrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Clinical epigeneticsMuscular dystrophy as a cause of unilateral scapular winging.
Internal medicine journal26th Meryon Lecture St Anne's College, Oxford, 5th July 2024 FSHD: The long road to DUX4.
Neuromuscular disorders : NMDMaximal Oxygen Consumption Is Negatively Associated with Fat Mass in Facioscapulohumeral Dystrophy.
International journal of environmental research and public healthBioimpedance analysis of fat free mass and its subcomponents and relative associations with maximal oxygen consumption in facioscapulohumeral dystrophy.
European journal of applied physiologyProgesterone may be a regulator and B12 could be an indicator of the proximal D4Z4 repeat methylation status on 4q35ter.
Journal of neurochemistryDiPRO1 distinctly reprograms muscle and mesenchymal cancer cells.
EMBO molecular medicineFacioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities.
Cold Spring Harbor perspectives in biologyQuality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyExchange of subtelomeric regions between chromosomes 4q and 10q reverts the FSHD genotype and phenotype.
Science advancesEpidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain.
Revista de neurologiaEngineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation.
iScienceSelective Dorsal Scapular Nerve and Long Thoracic Nerve Blocks for Rescue Analgesia in Scapulothoracic Arthrodesis Surgery: A Case Report.
A&A practiceDUX4-induced HSATII transcription causes KDM2A/B-PRC1 nuclear foci and impairs DNA damage response.
The Journal of cell biologyFitness and walking outcomes following aerobic and lower extremity strength training in facioscapulohumeral dystrophy: a case series.
International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptationRegional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression.
Human molecular geneticsLiving with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands.
Acta neurologica BelgicaExpanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
International journal of molecular sciences[Case report: Scapular asymmetry caused by congenital unilateral absence of trapezius].
RehabilitacionEffectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis.
Journal of neurology, neurosurgery, and psychiatryHypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene.
Skeletal muscleCharacterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.
Clinical geneticsThe Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes.
Neuromuscular disorders : NMDApabetalone, a Clinical-Stage, Selective BET Inhibitor, Opposes DUX4 Target Gene Expression in Primary Human FSHD Muscle Cells.
BiomedicinesFace to Face: deciphering facial involvement in inclusion body myositis.
Journal of neurologyAutosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain : a journal of neurologyWhole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.
Frontiers in geneticsEpigenetic profiling of the D4Z4 locus: Optimization of the protocol for studying DNA methylation at single CpG site level.
ElectrophoresisThree-dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy.
Muscle & nerveIndications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Journal of neuromuscular diseasesManagement of Coats-Like Disease in a Forty-Four-Year-Old Patient with FSHD Type I.
Case reports in ophthalmologyIn skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Nucleic acids researchNeuromuscular disease: 2023 update.
Free neuropathologyTest-retest reliability of three life balance measures in people with neuromuscular disease: the activity card sort-NL, the activity calculator, and the occupational balance questionnaire.
Disability and rehabilitationComplex 4q35 and 10q26 Rearrangements: A Challenge for Molecular Diagnosis of Patients With Facioscapulohumeral Dystrophy.
Neurology. GeneticsProgress in muscle research through the international congress of neuromuscular diseases (ICNMD): a narrative review.
European journal of translational myologyAssessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMDHuman DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction.
eLifeArtificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series.
Diagnostics (Basel, Switzerland)Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design.
bioRxiv : the preprint server for biologyTotal Hip Arthroplasty in a Patient With Fascioscapulohumeral Dystrophy.
Arthroplasty todayOutcomes of scapulothoracic fusion in patients with facioscapulohumeral dystrophy: a comparison of allograft versus autograft bone grafting.
Journal of shoulder and elbow surgeryMultisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
The Journal of molecular diagnostics : JMDErector Spinae Plane Block for Scapulothoracic Arthrodesis for Facioscapulohumeral Dystrophy Patients: A Case Series.
A&A practiceThe effect of tibialis anterior weakness on foot drop and toe clearance in patients with facioscapulohumeral dystrophy.
Clinical biomechanics (Bristol, Avon)Anticipation Avoids Adversity: Anesthetic Management of a Case of Facioscapulohumeral Dystrophy (FSHD).
CureusHuman DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD.
Human molecular geneticsThe effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks.
Neuromuscular disorders : NMDManagement of scapular dysfunction in facioscapulohumeral muscular dystrophy: the biomechanics of winging, arthrodesis indications, techniques and outcomes.
EFORT open reviewsManagement of spine deformity secondary to facioscapulohumeral dystrophy in pediatric patients. A case description and a literature review.
Spine deformityWhole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy.
Communications medicineGastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients.
Journal of human geneticsMultimodal Imaging Findings in Retinopathy Associated with Facioscapulohumeral Muscular Dystrophy before and after Treatment with Intravitreal Aflibercept and Laser Photocoagulation.
Case reports in ophthalmologyObjective Monitoring of Facioscapulohumeral Dystrophy During Clinical Trials Using a Smartphone App and Wearables: Observational Study.
JMIR formative researchRETINAL VASCULAR DISEASE IN LIMB-GIRDLE MUSCULAR DYSTROPHY.
Retinal cases & brief reportsGene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.
Frontiers in genome editingA pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD).
PloS oneScapuloThoracic Arthrodesis for Facio-Scapulo-Humeral Dystrophy: Outcomes at mean 7.3 years [3.5-13] follow-up. CT measurement of the fixation position of the arthrodesis and radioclinical correlations.
Orthopaedics & traumatology, surgery & research : OTSRFeasibility and Safety of Applying the Functional Electrical Stimulation to Child with Facioscapulohumeral Dystrophy: A Case Report.
Physical & occupational therapy in pediatricsConvergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Orphanet journal of rare diseasesFacioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
Scientific reportsCytosolic adaptation to mitochondria-induced proteostatic stress causes progressive muscle wasting.
iScienceJoining mainstream research on Facioscapulohumeral Dystophy: disease prevalence in China.
The Lancet regional health. Western PacificSystemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort.
Muscle & nerveInfantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series.
Hong Kong medical journal = Xianggang yi xue za zhiElevated plasma complement components in facioscapulohumeral dystrophy.
Human molecular geneticsA proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression.
Scientific reportsFacioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells-derived innervated muscle fibres.
Journal of cachexia, sarcopenia and muscleScapular Winging following Sports-Related Injury in a Rugby Player.
Case reports in orthopedicsThe Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease.
Orphanet journal of rare diseasesRespiratory Muscle Function Tests and Diaphragm Ultrasound Predict Nocturnal Hypoventilation in Slowly Progressive Myopathies.
Frontiers in neurologyHome-based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy.
Muscle & nerveRIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy.
Journal of cachexia, sarcopenia and muscleNatural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up.
NeurologyExperiences of patients with facioscapulohumeral dystrophy with facial weakness: a qualitative study.
Disability and rehabilitationFacioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A "triple trouble" case report and review of the literature on the association of MS and muscle disorders.
Neuromuscular disorders : NMDReliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy.
Neuromuscular disorders : NMDCardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD).
Frontiers in neurologyFSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach.
Diagnostics (Basel, Switzerland)Analysis of genes regulated by DUX4 via oxidative stress reveals potential therapeutic targets for treatment of facioscapulohumeral dystrophy.
Redox biologyETV4 and ETV5 drive synovial sarcoma through cell cycle and DUX4 embryonic pathway control.
The Journal of clinical investigationPhase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement.
British journal of clinical pharmacologyScreening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire.
Muscle & nerveThe facioscapulohumeral muscular dystrophy Rasch-built overall disability scale (FSHD-RODS).
European journal of neurologyScapular winging secondary to serratus anterior dysfunction: analysis of clinical presentations and etiology in a consecutive series of 96 patients.
Journal of shoulder and elbow surgeryCurrent Therapeutic Approaches in FSHD.
Journal of neuromuscular diseasesRelationship of DUX4 and target gene expression in FSHD myocytes.
Human mutationLate-onset myopathies: clinical features and diagnosis.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyCLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective Analysis.
NeurologyChromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
Journal of medical geneticsElucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Journal of neuromuscular diseasesGene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?
Journal of personalized medicineA Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy.
Molecular therapy. Nucleic acidsMulti-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.
Journal of personalized medicineMotion sensor-acquired reachable workspace correlates with patient-reported upper extremity activities of daily living (ADL) function in facioscapulohumeral dystrophy.
Muscle & nerveVoluntary winging of the scapula: Proposed diagnostic criteria.
Muscle & nerveOphthalmological findings in facioscapulohumeral dystrophy.
Brain communicationsBilateral Scapulothoracic Fusions Fixed with High-Strength Suture Tapes for Facioscapulohumeral Dystrophy: A Case Report.
JBJS case connectorTherapeutic Strategies Targeting DUX4 in FSHD.
Journal of clinical medicineDiagnosing Muscular Dystrophies: Comparison of Techniques and Their Cost Effectiveness: A Multi-institutional Study.
Journal of neurosciences in rural practice[Pain management in rare diseases].
Schmerz (Berlin, Germany)DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.
Journal of personalized medicineMultilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells.
CellsA novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy.
Orthopaedics & traumatology, surgery & research : OTSRClinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.
Journal of medical geneticsMuscle ultrasound is a responsive biomarker in facioscapulohumeral dystrophy.
NeurologyLongitudinal measures of RNA expression and disease activity in FSHD muscle biopsies.
Human molecular geneticsSpinal fusion in facioscapulohumeral dystrophy for hyperlordosis: A case report.
MedicineMyopathies presenting with head drop: Clinical spectrum and treatment outcomes.
Neuromuscular disorders : NMDMethylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism.
Neurology. GeneticsRespiratory muscle dysfunction in facioscapulohumeral muscular dystrophy : Reference article: Sleep-related breathing disorders in facioscapulohumeral dystrophy (https://doi.org/10.1007/s11325-019-01843-1).
Sleep & breathing = Schlaf & AtmungDUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression.
Cell reportsIntronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
Journal of medical geneticsFunctional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy.
The Journal of bone and joint surgery. American volume26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019.
Neuromuscular disorders : NMDMeasurement properties and utility of performance-based outcome measures of physical functioning in individuals with facioscapulohumeral dystrophy - A systematic review and evidence synthesis.
Neuromuscular disorders : NMDGeneration of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients.
Stem cell researchLongitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMDSuperficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks.
IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology SocietyDUX4 Pathological Expression: Causes and Consequences in Cancer.
Trends in cancerAdvances in imaging of brain abnormalities in neuromuscular disease.
Therapeutic advances in neurological disordersSleep-related breathing disorders in facioscapulohumeral dystrophy.
Sleep & breathing = Schlaf & AtmungDeciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Journal of medical geneticsA Pediatric Review of Facioscapulohumeral Muscular Dystrophy.
Journal of pediatric neurology : JPN[Skeletal muscle MRI of lower limbs in patients with facioscapulohumeral dystrophy].
Zhonghua yi xue za zhiUnilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy.
Arquivos de neuro-psiquiatriaThe best care for children with facioscapulohumeral dystrophy.
Developmental medicine and child neurologyClinical features of facioscapulohumeral muscular dystrophy 1 in childhood.
Developmental medicine and child neurologyExperiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study.
Neuromuscular disorders : NMDA multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.
Ideggyogyaszati szemleTransgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis.
Human molecular geneticsFacioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Annals of neurologyAntisense Oligonucleotide Targeting of 3'-UTR of mRNA for Expression Knockdown.
Methods in molecular biology (Clifton, N.J.)Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations.
American journal of ophthalmology case reportsLong-term results of scapulothoracic arthrodesis with multiple cable method for facioscapulohumeral dystrophy: do the results deteriorate over time?
The bone & joint journalIsoprostanes as markers for muscle aging in older athletes.
Biochimie openA 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyTargeting the Polyadenylation Signal of Pre-mRNA: A New Gene Silencing Approach for Facioscapulohumeral Dystrophy.
International journal of molecular sciencesFacioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle.
Human molecular geneticsIs Going Beyond Rasch Analysis Necessary to Assess the Construct Validity of a Motor Function Scale?
Archives of physical medicine and rehabilitationFunctional domains of the FSHD-associated DUX4 protein.
Biology openMonosomy 18p is a risk factor for facioscapulohumeral dystrophy.
Journal of medical geneticsNuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.
eLifeSpecific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.
Neuromuscular disorders : NMDUnilateral winged scapula: Clinical and electrodiagnostic experience with 128 cases, with special attention to long thoracic nerve palsy.
Muscle & nervePerturbation of muscle metabolism in patients with muscular dystrophy in early or acute phase of disease: In vitro, high resolution NMR spectroscopy based analysis.
Clinica chimica acta; international journal of clinical chemistryUnusual Case of Facioscapulohumeral Dystrophy.
Journal of clinical neuromuscular diseaseEarly onset facioscapulohumeral dystrophy - a systematic review using individual patient data.
Neuromuscular disorders : NMDChronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy.
Muscle & nerveDifferent profiles of upper limb function in four types of neuromuscular disorders.
Neuromuscular disorders : NMDBET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells.
Skeletal muscleLong-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study.
PloS oneWhich nonautoimmune myopathies are most frequently misdiagnosed as myositis?
Current opinion in rheumatologyUltrasound Imaging of Muscle Contraction of the Tibialis Anterior in Patients with Facioscapulohumeral Dystrophy.
Ultrasound in medicine & biologyAxillary nerve block for a wrist fracture in a patient with facioscapulohumeral (Landouzy-Dejerine) disease.
Anaesthesia, critical care & pain medicineMolecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Human mutationCognitive behavioural therapy for reducing fatigue in post-polio syndrome and in facioscapulohumeral dystrophy: A comparison.
Journal of rehabilitation medicineAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Statins in Genetic Myopathies: A Retrospective Analysis of Safety and Tolerability.
- Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexity.
- Co-Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature.
- Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy.
- Interleukin-6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses.
- KLF18 is a necessary component of the DUX4-initiated transcriptional network and a candidate locus for phenotypic diversity.
- Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review.
- Muscle Magnetic Resonance Imaging Phenotyping and Pattern Recognition in Genetically Confirmed Myopathies: A Large-Cohort Study from the Indian Subcontinent.
- Co-contraction of shoulder and upper extremity muscles in individuals with muscle dystrophy compared to healthy persons during reaching-to-target tasks.
- A study evaluating differences in 3D upper limb kinematics and surface electromyography measures in adults with and without facioscapulohumeral dystrophy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:269(Orphanet)
- MONDO:0001347(MONDO)
- GARD:9941(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1399182(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
