EDMD2 - autosomal dominant Emery-Dreifuss muscular dystrophy

disorder

SNOMED 1010712009CUI C0410190

Overview

EDMD2 - autosomal dominant Emery-Dreifuss muscular dystrophy is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal heart rate

Always present (100%)HP:0011675

Difficulty running

Always present (100%)HP:0009046

Difficulty walking up stairs

Always present (100%)HP:0003551

Exertional dyspnea

Always present (100%)HP:0002875

First degree atrioventricular block

Always present (100%)HP:0011705

Frequent falls

Always present (100%)HP:0002359

Inability to heel walk

Always present (100%)HP:0009027

Interstitial cardiac fibrosis

Always present (100%)HP:0031329

Left anterior hemiblock

Always present (100%)HP:0011711

Limb-girdle muscle weakness

Always present (100%)HP:0003325

Peroneal muscle atrophy

Always present (100%)HP:0009049

Peroneal muscle weakness

Always present (100%)HP:0011727

Positive Gower sign

Always present (100%)HP:0003391

Reduced ejection fraction

Always present (100%)HP:0012664

Syncope

Always present (100%)HP:0001279

Tiredness

Always present (100%)HP:0012378

Delayed relaxation of muscle fibres after contraction

Very frequent (80-99%)HP:0002486

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Elbow contracture

Very frequent (80-99%)HP:0034391

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

Stiff joint

Very frequent (80-99%)HP:0001387

Stiff neck

Very frequent (80-99%)HP:0025258

Absent muscle fiber emerin

Frequent (30-79%)HP:0030117

Achilles tendon contracture

Frequent (30-79%)HP:0001771

Back pain

Frequent (30-79%)HP:0003418

Decreased cervical spine flexion due to contractures of posterior cervical muscles

Frequent (30-79%)HP:0004631

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Related Conditions

Emery-Dreifuss muscular dystrophy(parent)

Hereditary progressive muscular dystrophy(parent)

Autosomal dominant hereditary disorder(parent)

Quick Facts

SNOMED CT: 1010712009
UMLS CUI: C0410190
Fully Specified Name: Autosomal dominant 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.