Overview
X-linked Emery-Dreifuss muscular dystrophy is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Research Evidence
Peer-reviewed studies linked via MeSH term "X-Linked Emery-Dreifuss Muscular Dystrophy" from the MEDLINE/PubMed database.
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Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
[object Object], [object Object], [object Object] et al. · Neuropediatrics · 2023
PMID: 37257496Case Report
Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.
[object Object], [object Object], [object Object] et al. · J Neuromuscul Dis · 2022
PMID: 36031908Case Report
A novel mutation in human EMD gene and mitochondrial dysfunction in emerin knockdown cardiomyocytes.
[object Object], [object Object], [object Object] et al. · J Cell Mol Med · 2022
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
[object Object], [object Object], [object Object] et al. · Eur Heart J · 2023
Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy.
[object Object], [object Object], [object Object] et al. · JACC Clin Electrophysiol · 2021
PMID: 33516708Other
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction.
[object Object], [object Object], [object Object] et al. · Circ Arrhythm Electrophysiol · 2020
PMID: 32755394Other
Expanding the Clinical Phenotype of Emerinopathies: Atrial Standstill and Left Ventricular Noncompaction.
[object Object] · Circ Arrhythm Electrophysiol · 2020
PMID: 33079577Other
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
[object Object], [object Object], [object Object] et al. · Circ Cardiovasc Genet · 2012
PMID: 22923418Other
Search all PubMed articles for X-linked Emery-Dreifuss muscular dystrophy
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed relaxation of muscle fibres after contraction
Very frequent (80-99%)HP:0002486
Elevated serum creatine phosphokinase
Very frequent (80-99%)HP:0003236
limb girdle muscular dystrophy
Very frequent (80-99%)HP:0006785
Myopathy
Very frequent (80-99%)HP:0003198
Pectus excavatum
Very frequent (80-99%)HP:0000767
Reduced tendon reflexes
Very frequent (80-99%)HP:0001315
Stiff joint
Very frequent (80-99%)HP:0001387
Absent muscle fiber emerin
Frequent (30-79%)HP:0030117
Back pain
Frequent (30-79%)HP:0003418
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Decreased cervical spine flexion due to contractures of posterior cervical muscles
Frequent (30-79%)HP:0004631
EMG: myopathic changes
Frequent (30-79%)HP:0003458
Gait disturbance
Frequent (30-79%)HP:0001288
Increased plasma LDL levels
Frequent (30-79%)HP:0003141
Increased triglycerides
Frequent (30-79%)HP:0002155
Proximal lower limb muscle atrophy
Frequent (30-79%)HP:0008956
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Proximal upper limb amyotrophy
Frequent (30-79%)HP:0008948
Rimmed vacuoles
Frequent (30-79%)HP:0003805
Scapular weakness
Frequent (30-79%)HP:0003691
Short neck
Frequent (30-79%)HP:0000470
Spinal rigidity
Frequent (30-79%)HP:0003306
Sprengel deformity
Frequent (30-79%)HP:0000912
Type 1 muscle fiber atrophy
Frequent (30-79%)HP:0011807
Waddling gait
Frequent (30-79%)HP:0002515
Walking on tiptoes
Frequent (30-79%)HP:0030051
Achilles tendon contracture
Occasional (5-29%)HP:0001771
Atrioventricular nodal disease
Occasional (5-29%)HP:0001678
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Quick Facts
- SNOMED CT
- 1156836006
- UMLS CUI
- C0751337
- Fully Specified Name
- X-linked Emery-Dreifuss muscular dystrophy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.