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Emery-Dreifuss Muscular Dystrophy

Emery–Dreifuss Muscular Dystrophy (EDMD): Comprehensive Disease Characteristics Report

2026-06-16
Falcon MONDO:0016830 Model: Edison Scientific Literature 60 citations

Emery–Dreifuss Muscular Dystrophy (EDMD): Comprehensive Disease Characteristics Report

Executive summary

Emery–Dreifuss muscular dystrophy (EDMD) is a genetically heterogeneous, primarily Mendelian neuromuscular disorder within the spectrum of nuclear-envelope diseases (laminopathies/nuclear envelopathies), classically defined by a triad of (i) early musculo‑tendinous contractures, (ii) slowly progressive skeletal myopathy (often humero‑peroneal or scapulo‑humeroperoneal distribution), and (iii) cardiac involvement dominated by atrial disease, conduction system disease, arrhythmias, thromboembolism, and variable progression to cardiomyopathy/heart failure and sudden death. (granata2026cardiacinvolvementin pages 2-4, granata2026cardiacinvolvementin pages 4-6, cannie2023emery–dreifussmusculardystrophy pages 2-3)

Recent (2023–2024) literature underscores: (1) a substantial risk of malignant ventricular arrhythmias and end-stage heart failure even in X‑linked EDMD1 (EMD) male carriers, prompting earlier implantable cardioverter‑defibrillator (ICD) consideration; (2) high pediatric risk in early-onset LMNA-related phenotypes with frequent malignant arrhythmias detected by implantable loop recorders; (3) convergent pathophysiology across EDMD genes involving nucleo‑cytoskeletal coupling and mechanotransduction failure, mechanical-stress–induced nuclear damage/DNA damage responses, and transcriptional programs involving fibrosis, metabolism, and splicing; and (4) expanding registry infrastructure and multi‑omics studies aimed at modifier genes and molecular stratification to enable precision medicine. (cannie2023emery–dreifussmusculardystrophy pages 2-3, cesar2023characterizationofcardiac pages 1-2, heras2023metabolicfibroticand pages 1-2, NCT05394506 chunk 1)

1. Disease information

1.1 Concise overview

EDMD is a rare inherited muscular dystrophy characterized by early contractures, progressive muscle weakness/atrophy, and cardiac conduction/arrhythmia complications that may be life‑threatening and can precede prominent skeletal muscle symptoms. (granata2026cardiacinvolvementin pages 2-4, granata2026cardiacinvolvementin pages 9-10)

1.2 Key identifiers

A normalized identifier set extractable from the retrieved sources is provided in the table below.

Table (click to expand)
Identifier system Identifier Entity (disease/subtype/gene) Notes (inheritance/causal gene)
MONDO MONDO:0016830 Emery-Dreifuss muscular dystrophy Overall EDMD disease entity in OpenTargets/Monarch disease mapping; associated targets include LMNA, EMD, FHL1, SYNE1/2, TMEM43. URL: https://platform.opentargets.org/disease/MONDO_0016830 (OpenTargets Search: Emery-Dreifuss muscular dystrophy)
MONDO MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy X-linked EDMD; OpenTargets links this entity to EMD and FHL1. URL: https://platform.opentargets.org/disease/MONDO_0010680 (OpenTargets Search: Emery-Dreifuss muscular dystrophy)
MONDO MONDO:0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant Autosomal dominant EDMD2; linked to LMNA. URL: https://platform.opentargets.org/disease/MONDO_0021569 (OpenTargets Search: Emery-Dreifuss muscular dystrophy)
MONDO MONDO:0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant Autosomal dominant EDMD4; linked to SYNE1. URL: https://platform.opentargets.org/disease/MONDO_0013071 (OpenTargets Search: Emery-Dreifuss muscular dystrophy)
MONDO MONDO:0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant Autosomal dominant EDMD7; linked to TMEM43. URL: https://platform.opentargets.org/disease/MONDO_0013677 (OpenTargets Search: Emery-Dreifuss muscular dystrophy)
OMIM phenotype OMIM #310300 EDMD1 / classical X-linked EDMD X-linked EDMD caused by EMD variants; explicitly reported in review text as classical X-linked EDMD. DOI source: https://doi.org/10.3390/jcm15093286 (granata2026cardiacinvolvementin pages 1-2)
OMIM phenotype OMIM #181350 EDMD2 / autosomal dominant EDMD Autosomal dominant EDMD caused by LMNA variants; explicitly reported in review text. DOI source: https://doi.org/10.3390/jcm15093286 (granata2026cardiacinvolvementin pages 1-2)
OMIM phenotype OMIM #616516 EDMD3 / autosomal recessive EDMD Rare autosomal recessive EDMD; reported by Rahmuni et al. 2024. DOI source: https://doi.org/10.1159/000538917 (rahmuni2024twomoroccanfamilies pages 1-2)
OMIM gene OMIM #300384 EMD Encodes emerin; major causal gene for EDMD1/X-linked EDMD. DOI source: https://doi.org/10.3390/jcm15093286 (granata2026cardiacinvolvementin pages 1-2)
OMIM gene OMIM #150330 LMNA Encodes lamin A/C; major causal gene for EDMD2/autosomal dominant EDMD. DOI source: https://doi.org/10.3390/jcm15093286 (granata2026cardiacinvolvementin pages 1-2)
OMIM gene OMIM #612048 TMEM43 Gene linked to EDMD7/autosomal dominant EDMD in retrieved review text. DOI source: https://doi.org/10.3390/jcm15093286 (granata2026cardiacinvolvementin pages 4-6)
OMIM gene OMIM #125660 DES Desmin; referenced as related nuclear-cytoskeletal/cardiac phenotype gene in EDMD spectrum review. DOI source: https://doi.org/10.3390/jcm15093286 (granata2026cardiacinvolvementin pages 4-6)
Not extracted from retrieved full text — Orphanet / MeSH / ICD Orphanet ORPHAcode, MeSH descriptor, and ICD-10/ICD-11 codes were not extracted from the retrieved full-text evidence used here. (granata2026cardiacinvolvementin pages 1-2, rahmuni2024twomoroccanfamilies pages 1-2, heller2020emery‐dreifussmusculardystrophy pages 1-2)

Table: This table summarizes the core disease and gene identifiers for Emery-Dreifuss muscular dystrophy and key genetic subtypes, integrating MONDO/OpenTargets and OMIM evidence. It is useful for disease knowledge-base normalization and subtype-to-gene mapping.

Notes on missing identifiers: Orphanet ORPHAcode, MeSH descriptor ID, and ICD‑10/ICD‑11 codes were not extractable from the retrieved full texts in this run; this report therefore flags them as “not extracted” rather than guessing. (heller2020emery‐dreifussmusculardystrophy pages 1-2)

1.3 Synonyms / alternative names

Commonly used descriptors include “Emery–Dreifuss muscular dystrophy,” “EDMD,” “X‑linked EDMD / EDMD1 (emerinopathy),” “autosomal dominant EDMD / EDMD2 (laminopathy),” and “cardiac emerinopathy” for predominantly cardiac EMD phenotypes. (granata2026cardiacinvolvementin pages 10-10, granata2026cardiacinvolvementin pages 4-6)

1.4 Evidence source type

Information synthesized here is derived from aggregated disease-level reviews and systematic reviews, plus human cohorts/case reports, mechanistic in vitro studies in patient cells, and animal models. (cesar2023characterizationofcardiac pages 1-2, heras2023metabolicfibroticand pages 1-2, zhang2023net39protectsmuscle pages 1-2)

2. Etiology

2.1 Disease causal factors

EDMD is primarily genetic, caused by pathogenic variants in nuclear envelope / nuclear lamina / LINC complex and related proteins, with major forms due to EMD (emerin; X‑linked EDMD1) and LMNA (lamin A/C; autosomal dominant EDMD2). (cannie2023emery–dreifussmusculardystrophy pages 2-3, granata2026cardiacinvolvementin pages 1-2)

Additional genes implicated in EDMD spectrum include FHL1, SYNE1/SYNE2, TMEM43, and other nuclear-envelope genes. (granata2026cardiacinvolvementin pages 4-6, heller2020emery‐dreifussmusculardystrophy pages 1-2)

2.2 Risk factors

Primary risk factor: carrying a pathogenic/likely pathogenic variant in a causal gene (e.g., EMD or LMNA). (cannie2023emery–dreifussmusculardystrophy pages 2-3, granata2026cardiacinvolvementin pages 1-2)

Sex as a risk modifier in X‑linked EDMD1: males are predominantly affected for skeletal muscle phenotype; female carriers can develop later-onset cardiac disease. (cannie2023emery–dreifussmusculardystrophy pages 2-3, granata2026cardiacinvolvementin pages 10-10)

2.3 Protective factors

No validated protective genetic variants or environmental protective factors were identified in the retrieved evidence.

2.4 Gene–environment interactions

Not clearly established in the retrieved evidence; mechanistic work supports that mechanical load/stress (an environmental/physiologic exposure in muscle) interacts with nuclear-envelope fragility and LINC complex dysfunction to drive nuclear damage and myopathy. (zhang2023net39protectsmuscle pages 1-2, cenni2024desminandplectin pages 2-4)

3. Phenotypes

3.1 Core clinical phenotype spectrum

Classic triad (definitional): 1) Early joint/tendon contractures (commonly elbows, Achilles, posterior cervical/paraspinal musculature/rigid spine). (granata2026cardiacinvolvementin pages 2-4, granata2026cardiacinvolvementin pages 6-7) 2) Slowly progressive skeletal muscle weakness/atrophy (often humero‑peroneal distribution). (granata2026cardiacinvolvementin pages 2-4, cannie2023emery–dreifussmusculardystrophy pages 2-3) 3) Cardiac involvement: conduction disease, atrial arrhythmias (AF/AFL/AT), atrial standstill, ventricular arrhythmias, thromboembolism, cardiomyopathy/heart failure, sudden death. (granata2026cardiacinvolvementin pages 4-6, granata2026cardiacinvolvementin pages 9-10)

Phenotype heterogeneity: EDMD may present with cardiac-predominant disease or skeletal-predominant disease; skeletal findings can be subtle even when cardiac disease is advanced, especially in LMNA-related disease. (granata2026cardiacinvolvementin pages 9-10, granata2026cardiacinvolvementin pages 10-10)

3.2 Age of onset, severity, progression

3.3 Frequencies / statistics (selected recent data)

  • In an EMD-variant carrier cohort, male carriers had MVA in 23.7% and end-stage HF in 13.2% over a median ~65 months follow-up; female carriers had ~42.8% developing a cardiac phenotype later (median age ~58.6 years). (cannie2023emery–dreifussmusculardystrophy pages 2-3)
  • In pediatric LMNA-related muscular dystrophy (including EDMD), malignant arrhythmias were detected in ~20% (5/28), and DCM developed in 6/28. (cesar2023characterizationofcardiac pages 1-2)

3.4 Quality of life impact

QoL impacts are primarily mediated through progressive contractures, weakness (mobility limitations), and cardiac morbidity (arrhythmias, device implantation, thromboembolism risk) and, in advanced cases, respiratory failure/dysphagia. A supportive-care case report suggests that severe dysphagia/malnutrition can be profound (BMI 8.36 kg/m2) and that nutritional intervention can improve perceived well-being. (valoriani2024effectofnutritional pages 2-3, valoriani2024effectofnutritional pages 3-4)

3.5 Suggested HPO terms (non-exhaustive)

4. Genetic / molecular information

4.1 Causal genes (core)

4.2 Additional genes in EDMD spectrum

OMIM-recognized and review-supported genes include SYNE1, SYNE2, FHL1, TMEM43, SUN1, SUN2, TTN, among others; EDMD4/5 are linked to SYNE1/SYNE2 and EDMD7 to TMEM43 (OMIM #612048). (heller2020emery‐dreifussmusculardystrophy pages 1-2, granata2026cardiacinvolvementin pages 4-6)

4.3 Pathogenic variant examples from recent reports

Variant-level population allele frequencies and ClinVar classifications were not extracted in this run.

4.4 Modifier genes

A dedicated interventional multi‑omics study is recruiting to identify genetic modifiers of LMNA striated muscle laminopathies using WGS, RNA‑seq, chromatin assays, and proteomics with composite severity endpoints. (NCT05394506 chunk 1)

4.5 Epigenetics

In mechanically stretched LMNA-mutant (EDMD2) myoblasts, reduced H3K9 acetylation was reported alongside mechanotransduction defects, consistent with altered chromatin regulation downstream of nuclear-lamina dysfunction. (cenni2024desminandplectin pages 10-11)

5. Environmental information

No consistent exogenous environmental toxin/infectious triggers were identified in the retrieved evidence. Mechanical strain/load is the key physiologic “environmental” input interacting with nuclear-envelope fragility in mechanistic models. (zhang2023net39protectsmuscle pages 1-2, cenni2024desminandplectin pages 2-4)

6. Mechanism / pathophysiology

6.1 Current understanding: nuclear envelope disease model

EDMD mechanisms converge on disrupted nucleo‑cytoskeletal coupling (LINC complex dysfunction), impaired mechanotransduction, nuclear fragility, altered gene expression programs, fibrosis, and electrical instability in cardiomyocytes—manifesting clinically as atrial myopathy, conduction disease, ventricular arrhythmias, and cardiomyopathy/heart failure. (granata2026cardiacinvolvementin pages 4-6, granata2026cardiacinvolvementin pages 9-10)

6.2 Mechanistic causal chain (illustrative)

Genetic variant (EMD/LMNA/etc.) → nuclear lamina/inner nuclear membrane/LINC complex dysfunction → impaired force transmission & nuclear mechanics → mechanically induced nuclear deformation/rupture and DNA damage responses → maladaptive transcriptional reprogramming (fibrosis/metabolism/splicing; myogenic signaling) → muscle fiber degeneration and fibro‑fatty remodeling → progressive weakness/contractures; and in the heart, atrial disease/conduction block/arrhythmias → thromboembolism, HF, sudden death. (granata2026cardiacinvolvementin pages 4-6, heras2023metabolicfibroticand pages 1-2, zhang2023net39protectsmuscle pages 9-11)

6.3 Recent developments (2023–2024)

Mechanical stress → DNA damage axis (NET39): Muscle-specific Net39 knockout mice recapitulated EDMD-like muscle wasting and abnormal nuclei, with stretch-induced DNA damage in Net39-deficient myoblasts; in a laminopathy model (Lmna ΔK32), AAV-mediated Net39 delivery (1×10^14 vg/kg) reduced γH2A.X-positive nuclei and improved survival metrics, supporting a therapeutically tractable mechanotransduction/DNA-damage mechanism. (zhang2023net39protectsmuscle pages 1-2, zhang2023net39protectsmuscle pages 11-14)

Perinuclear cytoskeletal anchoring defects (desmin/plectin): Under cyclic stretch, control myoblasts recruit desmin and plectin to the nuclear envelope via lamin A/C; EDMD2 myoblasts show marked loss of recruitment (15–19% vs 55% controls) and ~60% failure of proper nuclear reorientation, linking LMNA mutations to defective mechanosignaling. (cenni2024desminandplectin pages 7-10, cenni2024desminandplectin pages 10-11)

Transcriptomic pathway convergence across EDMD genes: RNA-seq of EDMD-spectrum patient myotubes across 7 causal genes identified 1,127 DE genes (894 up, 233 down) when grouped, with pathway-level convergence on fibrosis/ECM, metabolism, myogenic signaling, and splicing; patients segregated into three molecular subgroups potentially correlating with clinical presentation. (heras2023metabolicfibroticand pages 1-2, heras2023metabolicfibroticand pages 14-15)

6.4 Suggested GO biological process terms (examples)

6.5 Suggested Cell Ontology (CL) cell types

7. Anatomical structures affected

7.1 Organ and system level

7.2 Tissue/cell level

7.3 Subcellular localization (GO cellular component suggestions)

7.4 UBERON anatomical structure suggestions

8. Temporal development

9. Inheritance and population

9.1 Inheritance patterns

9.2 Epidemiology

Prevalence estimates are variable across sources and regions. Granata 2026 summarizes ranges from ~1:400,000 to 1.3–2 per 100,000 (≈1:50,000–1:77,000), with other estimates around 0.39 per 100,000 and ~1:250,000 births; X-linked EDMD reported ~1:100,000 male births in some data. (granata2026cardiacinvolvementin pages 6-7)

10. Diagnostics

10.1 Clinical and cardiologic testing

A contemporary diagnostic approach integrates neuromuscular findings (contractures, humeroperoneal weakness/rigid spine) with structured cardiac assessment and genetic confirmation. (granata2026cardiacinvolvementin pages 9-10)

Cardiac tests: serial 12‑lead ECG, prolonged rhythm monitoring (Holter; device diagnostics; ILR), echocardiography, and cardiac MRI with tissue characterization when available. (granata2026cardiacinvolvementin pages 9-10, granata2026cardiacinvolvementin pages 21-22)

A pediatric LMNA cohort used systematic baseline assessment including echocardiography, ECG, EPS, and long-term ILR implantation with home monitoring, enabling detection of malignant arrhythmias requiring ICD implantation. (cesar2023characterizationofcardiac pages 3-4, cesar2023characterizationofcardiac pages 1-2)

Muscle biopsy: can demonstrate emerin deficiency by immunofluorescence in EDMD1; a pediatric EDMD1 case showed absence of nuclear emerin staining with mild dystrophic changes. (panicucci2023earlymusclemri pages 3-4, panicucci2023earlymusclemri pages 1-2)

Imaging (skeletal muscle MRI): muscle MRI can show selective patterns (e.g., lower-leg anterolateral compartment and medial gastrocnemius involvement) but patterns are heterogeneous and require cohort-level validation. (panicucci2023earlymusclemri pages 1-2, panicucci2023earlymusclemri pages 4-4)

10.2 Genetic testing strategy

Genetic testing is central for diagnosis, family screening, and risk stratification; targeted panels and Sanger sequencing for cascade screening are used in cohort studies, and multi-gene NGS is emphasized due to intra-/inter-familial heterogeneity. (cannie2023emery–dreifussmusculardystrophy pages 2-3, rahmuni2024twomoroccanfamilies pages 1-2)

10.3 Differential diagnosis

Not systematically extracted in this run; however, LMNA phenotypes overlap EDMD, limb-girdle muscular dystrophy 1B, and congenital muscular dystrophy presentations, requiring careful phenotyping and genetics. (cesar2023characterizationofcardiac pages 1-2)

11. Outcomes / prognosis

Cardiac disease is a major determinant of morbidity and mortality, including thromboembolism, heart failure, and sudden cardiac death. (granata2026cardiacinvolvementin pages 9-10, granata2026cardiacinvolvementin pages 17-18)

Systematic-review incidence rates (LMNA/EMD cardiolaminopathies): AF/AFL/AT 6.1–13.9 events/100 patient‑years; malignant ventricular arrhythmias up to 10.2/100 pt‑yrs; advanced conduction disturbances 3.2–7.7/100 pt‑yrs; thromboembolism up to 8.9/100 pt‑yrs; and all-cause mortality IR 0.6–4.8/100 pt‑yrs in LMNA cohorts, with many deaths due to SCD or HF. (valenti2022clinicalprofilearrhythmias pages 1-2, valenti2022clinicalprofilearrhythmias pages 12-14)

12. Treatment

12.1 Current applications / real-world implementation

Cardiac management (core): - Lifelong structured surveillance with ECG + prolonged rhythm monitoring, echocardiography, and CMR when available. (granata2026cardiacinvolvementin pages 22-24, granata2026cardiacinvolvementin pages 21-22) - Anticoagulation when AF/AFL occurs; consider anticoagulation in atrial standstill given high thromboembolic risk and reports of stroke even without documented atrial arrhythmia in LMNA cohorts. (valenti2022clinicalprofilearrhythmias pages 14-15, granata2026cardiacinvolvementin pages 17-18) - Device therapy: pacemaker for conduction disease when indicated, but pacemaker alone does not prevent sudden death from ventricular arrhythmias; ICD should be considered, particularly when pacing is needed and in LMNA-related disease based on risk models and additional markers beyond LVEF thresholds. (granata2026cardiacinvolvementin pages 18-20, valenti2022clinicalprofilearrhythmias pages 14-15)

Supportive neuromuscular care: contracture management (stretching/rehabilitation; orthopedic interventions in selected cases) and monitoring for respiratory/dysphagia complications. (panicucci2023earlymusclemri pages 2-3, valoriani2024effectofnutritional pages 2-3)

Nutrition as supportive care: in severe dysphagia/malnutrition, long-term home parenteral nutrition (TPN) was feasible in a case report, increasing weight by 8.5 kg at one year and maintaining it for 6 years. (valoriani2024effectofnutritional pages 1-2, valoriani2024effectofnutritional pages 4-5)

12.2 MAXO term suggestions (examples)

12.3 Experimental / clinical trials

Key EDMD/laminopathy trial/registry infrastructure identified: - NCT03058185 (OPALE): French observational registry of laminopathies/emerinopathies (LMNA and/or EMD pathogenic mutations), target enrollment 800, yearly comprehensive evaluations up to 10 years to define natural history, complications, and prognostic factors. URL: https://clinicaltrials.gov/study/NCT03058185 (NCT03058185 chunk 1) - NCT05394506: interventional study collecting muscle/skin biopsies for multi‑omics to identify modifier genes in LMNA striated muscle laminopathies; endpoints include composite skeletal and cardiac severity. URL: https://clinicaltrials.gov/study/NCT05394506 (NCT05394506 chunk 1) - NCT03439514: ARRY‑371797 (PF‑07265803) phase 3 program for LMNA dilated cardiomyopathy; registry record indicates published phase 3 REALM‑DCM results exist and provides data-sharing statement (consult linked publications for numeric outcomes). URL: https://clinicaltrials.gov/study/NCT03439514 (NCT03439514 chunk 5)

13. Prevention

Primary prevention (preventing occurrence) is not applicable for germline Mendelian EDMD except via reproductive options.

Secondary prevention: cascade genetic screening of relatives and early cardiac surveillance to prevent sudden death and thromboembolism via early device/anticoagulation decisions. (granata2026cardiacinvolvementin pages 9-10, NCT03058185 chunk 1)

Tertiary prevention: management of arrhythmias/conduction disease (ICD/PM), anticoagulation for AF/AFL/atrial standstill, contracture management, respiratory/nutrition support. (granata2026cardiacinvolvementin pages 17-18, valoriani2024effectofnutritional pages 1-2)

14. Other species / natural disease

Not identified in retrieved evidence.

15. Model organisms

Mechanistic and preclinical models include: - Mouse Net39 conditional knockout with EDMD-like skeletal muscle pathology and mechanical-stress–induced DNA damage; and AAV rescue experiments in Lmna ΔK32 mice, supporting the feasibility of gene delivery approaches targeting nuclear-envelope protective pathways. (zhang2023net39protectsmuscle pages 1-2, zhang2023net39protectsmuscle pages 11-14)

Recent quantitative highlights (2023–2024)

Table (click to expand)
Study (year; journal) Population/model (human/animal/in vitro) N Key findings (with quantitative stats) Relevance (diagnosis/prognosis/mechanism/treatment) URL/DOI
Cesar 2023; Frontiers in Cell and Developmental Biology Human pediatric LMNA-related muscular dystrophy cohort (EDMD, L-CMD, LGMD1B, mild weakness) 28 patients from 27 families Median age 8.5 years (IQR 4–12.5); 13 EDMD, 11 L-CMD, 2 LGMD1B, 2 mild weakness. DCM developed in 6 patients; malignant arrhythmias in 5 patients (20%), 4 with concomitant DCM; arrhythmias detected by implantable loop recorder (ILR) and triggered ICD implantation. Baseline work-up included echo, 12-lead ECG, electrophysiology study, and ILR home monitoring. Early-onset EDMD had worse cardiac prognosis. (cesar2023characterizationofcardiac pages 1-2, cesar2023characterizationofcardiac pages 2-3, cesar2023characterizationofcardiac pages 3-4) Prognosis; cardiac surveillance; pediatric diagnosis https://doi.org/10.3389/fcell.2023.1142937
Cannie 2023; European Heart Journal Human EMD variant carriers (EDMD1) with longitudinal cardiac follow-up 38 male, 21 female carriers Among males, 9/38 (23.7%) developed malignant ventricular arrhythmia (MVA) and 5/38 (13.2%) developed end-stage heart failure (ESHF) during median follow-up 65.0 months (IQR 24.3–109.5). No female carrier developed MVA/ESHF, but 9/21 (42.8%) developed a cardiac phenotype at median age 58.6 years (IQR 53.2–60.4). Incidence rates in male carriers with cardiac phenotype: MVA 4.8 per 100 person-years; ESHF 2.4 per 100 person-years; MVA risk similar to LMNA cardiac cohort (6.6 per 100 person-years). (cannie2023emery–dreifussmusculardystrophy pages 2-3) Prognosis; risk stratification; ICD/HF therapy implications https://doi.org/10.1093/eurheartj/ehad561
de las Heras 2023; Human Molecular Genetics Human EDMD-spectrum patient myotubes; RNA-seq/pathway analysis 10 patients, 7 genes; 2 controls RNA-seq across 10 unrelated EDMD-spectrum patients with mutations in LMNA, EMD, FHL1, SUN1, SYNE1, PLPP7, TMEM214. Grouping all patients identified 1,127 differentially expressed genes (894 upregulated, 233 downregulated). Individual patients had 310–2651 upregulated and 429–2384 downregulated genes; all samples had 56–94 million paired-end reads. Pathways converged on fibrosis/ECM, metabolism, myogenesis/alternate differentiation, and splicing; patient signatures segregated into 3 subgroups. (heras2023metabolicfibroticand pages 2-3, heras2023metabolicfibroticand pages 1-2) Mechanism; biomarker discovery; molecular stratification https://doi.org/10.1093/hmg/ddac264
Zhang 2023; Journal of Clinical Investigation Mouse Net39 conditional knockout, human EDMD biopsies, stretched myoblasts Multiple cohorts; e.g., muscle weight n=9–13/group, RNA-seq n=3/group, rescue n=3–4/group Net39 cKO recapitulated EDMD-like muscle wasting, impaired contractility, abnormal myonuclei, and DNA damage. Bulk RNA-seq in cKO muscle showed 318 upregulated and 112 downregulated genes, with p53 signaling prominent. Human EDMD biopsies showed ~80% of small angular fibers positive for γH2A.X. AAV-Net39 rescue at 1×10^14 vg/kg (P2 facial vein) restored Net39 levels, reduced centralized nuclei and γH2A.X-positive nuclei, improved myofiber area, and extended survival in Lmna ΔK32 mice. (zhang2023net39protectsmuscle pages 11-14, zhang2023net39protectsmuscle pages 1-2, zhang2023net39protectsmuscle pages 9-11, zhang2023net39protectsmuscle pages 6-8) Mechanism; preclinical gene therapy https://doi.org/10.1172/JCI163333
Cenni 2024; Cells Human control and EDMD2 (LMNA-mutant) myoblasts under cyclic stretch In vitro; multiple cell-line comparisons Under 10% sinusoidal strain at 1 Hz for 4 h, desmin recruitment to the nuclear rim after stretch was 15%, 16%, and 19% in EDMD2 lines versus 55% in controls; ~35% of EDMD2 cells showed cytoplasmic desmin disorganization. About 60% of EDMD2 nuclei failed normal anisotropic reorientation and instead aligned parallel to stretch. Lamin A/C knockdown reduced desmin recruitment from ~65% to ~30%; plectin-1 recruitment and lamin A/C–SUN1 interaction were also reduced. (cenni2024desminandplectin pages 7-10, cenni2024desminandplectin pages 5-7, cenni2024desminandplectin pages 10-11, cenni2024desminandplectin pages 2-4) Mechanotransduction; nuclear-cytoskeletal coupling https://doi.org/10.3390/cells13020162
Panicucci 2023; Neuropediatrics Human pediatric EDMD1 case report 1 13-year-old boy with EMD c.153dupC/p.Ser52Glufs*9, absent emerin on biopsy. Functional metrics: 6-minute walk test 409 m; North Star 28/34; pulmonary function FVC 2.7 L (76%) and FEV1 2.4 L (83%). MRI showed mild diffuse thigh involvement with preferential lower-leg involvement of tibialis anterior, extensor digitorum longus, peroneus longus, and medial gastrocnemius; 24-h Holter found rhythm abnormalities requiring β-blocker therapy. (panicucci2023earlymusclemri pages 3-4, panicucci2023earlymusclemri pages 2-3, panicucci2023earlymusclemri pages 1-2) Diagnosis; imaging phenotype; early natural history https://doi.org/10.1055/s-0043-1768989
Valoriani 2024; Frontiers in Nutrition Human EDMD supportive-care case report 1 26-year-old male with LMNA c.523_537del and severe malnutrition: weight 22.5 kg, height 1.64 m, BMI 8.36 kg/m², oral intake ~500–600 kcal/day. TPN (Smofkabiven® 986 mL/day = 900 kcal non-protein + 50 g amino acids) led to +8.5 kg at 1 year with stable weight over 6 years; no PICC-related infections and no heart failure during follow-up. (valoriani2024effectofnutritional pages 1-2, valoriani2024effectofnutritional pages 4-5, valoriani2024effectofnutritional pages 2-3, valoriani2024effectofnutritional pages 3-4) Treatment; nutrition; quality-of-life support https://doi.org/10.3389/fnut.2024.1343548

Table: This table compiles the main quantitative results from key 2023-2024 EDMD and LMNA-related studies, spanning human cohorts, mechanistic cell studies, animal models, imaging, and supportive care. It is useful for quickly locating concrete statistics relevant to diagnosis, prognosis, pathophysiology, and emerging treatment strategies.

In addition, Cesar et al. Table 2 (pediatric cohort) provides patient-level LVEF/GLS, arrhythmias, and device therapy; cropped table images are available from the source document. (cesar2023characterizationofcardiac media 75cf862c, cesar2023characterizationofcardiac media f6833c29)

Limitations of this tool-based report

  • ICD/ICD-11, MeSH descriptor IDs, and Orphanet ORPHAcode could not be extracted from the retrieved full texts in this run; these should be added by direct database lookup (Orphanet, NLM MeSH Browser, WHO ICD) for a production knowledge base. (heller2020emery‐dreifussmusculardystrophy pages 1-2)
  • Many sections (variant allele frequencies in gnomAD, ClinVar classifications, systematic phenotype frequencies beyond cardiac outcomes, detailed differential diagnosis tables) require additional targeted retrieval.

References

  1. (granata2026cardiacinvolvementin pages 2-4): Lucio Giuseppe Granata, Maria Claudia Lo Nigro, Fabiana Cipolla, Nicola Ferrara, Anna Rosa Napoli, Marcello Marchetta, Simona Giubilato, Pasquale Crea, Giuseppe Dattilo, Olimpia Trio, Giuseppe Andò, Cesare de Gregorio, and Giuseppina Maura Francese. Cardiac involvement in emery–dreifuss muscular dystrophy, from arrhythmias to heart failure and sudden death: a contemporary review. Journal of Clinical Medicine, 15:3286, Apr 2026. URL: https://doi.org/10.3390/jcm15093286, doi:10.3390/jcm15093286. This article has 0 citations.

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