Eichsfeld type congenital muscular dystrophy

disorder

SNOMED 240063002CUI C0410180

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Central nuclei

Always present (100%)HP:0003687

Decreased vital capacity

Always present (100%)HP:0002792

Increased endomysial connective tissue

Always present (100%)HP:0100297

Increased variation in muscle fibre size

Always present (100%)HP:0003557

Neck flexion weakness

Always present (100%)HP:0003722

Type 1 muscle fiber predominance

Always present (100%)HP:0003803

Abnormal skeletal morphology

Very frequent (80-99%)HP:0011842

Cobb angle greater than ten degrees

Very frequent (80-99%)HP:0002650

Decreased body height

Very frequent (80-99%)HP:0004322

Facial muscle weakness of muscles innervated by CN VII

Very frequent (80-99%)HP:0010628

Flaccid neck

Very frequent (80-99%)HP:0000467

Low body weight

Very frequent (80-99%)HP:0004325

Myopathy

Very frequent (80-99%)HP:0003198

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Respiratory insufficiency

Very frequent (80-99%)HP:0002093

Spinal rigidity

Very frequent (80-99%)HP:0003306

Abnormal spirometry test

Frequent (30-79%)HP:0030878

Abnormality of cardiac conduction system

Frequent (30-79%)HP:0031546

Delay in head control

Frequent (30-79%)HP:0002421

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Flexion contractures of hips

Frequent (30-79%)HP:0003273

Hamstring contractures

Frequent (30-79%)HP:0003089

Hyporeflexia

Frequent (30-79%)HP:0001265

Muscle wasting

Frequent (30-79%)HP:0003202

Nocturnal under breathing

Frequent (30-79%)HP:0002877

Pneumonia

Frequent (30-79%)HP:0002090

Prominent swayback

Frequent (30-79%)HP:0003307

Delayed ability to walk

Occasional (5-29%)HP:0031936

Gowers sign

Occasional (5-29%)HP:0003391

Loss of ambulation

Occasional (5-29%)HP:0002505

Related Conditions

Congenital hereditary muscular dystrophy(parent)

Quick Facts

SNOMED CT: 240063002
UMLS CUI: C0410180
Fully Specified Name: Eichsfeld type congenital 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.