Autosomal recessive Emery-Dreifuss muscular dystrophy

disorder

SNOMED 1156848009CUI C1450051

Overview

Autosomal recessive 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.

Delayed relaxation of muscle fibres after contraction

Very frequent (80-99%)HP:0002486

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hyporeflexia of lower limbs

Very frequent (80-99%)HP:0002600

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

Absent muscle fiber emerin

Frequent (30-79%)HP:0030117

Achilles tendon contracture

Frequent (30-79%)HP:0001771

Back pain

Frequent (30-79%)HP:0003418

EMG: myopathic changes

Frequent (30-79%)HP:0003458

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Gait disturbance

Frequent (30-79%)HP:0001288

Inability to touch chin to chest

Frequent (30-79%)HP:0004631

Increased plasma LDL levels

Frequent (30-79%)HP:0003141

Increased triglycerides

Frequent (30-79%)HP:0002155

Interruption of electrical communication between upper and lower chambers of heart

Frequent (30-79%)HP:0001678

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

Scapula alata

Frequent (30-79%)HP:0003691

Spinal rigidity

Frequent (30-79%)HP:0003306

Sprengel deformity

Frequent (30-79%)HP:0000912

Stretched and thinned heart muscle

Frequent (30-79%)HP:0001644

Sudden cardiac death

Frequent (30-79%)HP:0001645

Supraventricular arrhythmias

Frequent (30-79%)HP:0005115

Type 1 muscle fiber atrophy

Frequent (30-79%)HP:0011807

Ventricular escape rhythm

Frequent (30-79%)HP:0005155

Related Conditions

Emery-Dreifuss muscular dystrophy(parent)

Hereditary progressive muscular dystrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1156848009
UMLS CUI: C1450051
Fully Specified Name: Autosomal recessive 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.