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Duchenne muscular dystrophy

disorder
SNOMED 76670001CUI C0013264

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.

Achilles tendon contracture
Always present (100%)HP:0001771
Delayed gross motor development
Always present (100%)HP:0002194
Difficulty walking up stairs
Always present (100%)HP:0003551
Flexion contractures of knees
Always present (100%)HP:0006380
Hamstring contractures
Always present (100%)HP:0003089
Loss of ambulation
Always present (100%)HP:0002505
Muscle weakness
Always present (100%)HP:0001324
Obstructive sleep apnea
Always present (100%)HP:0002870
Respiratory failure due to muscle weakness
Always present (100%)HP:0002747
Restrictive lung disease
Always present (100%)HP:0002091
Walking on tiptoes
Always present (100%)HP:0030051
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Cognitive delay
Very frequent (80-99%)HP:0001263
Disease of the heart muscle
Very frequent (80-99%)HP:0001638
Elevated serum creatine phosphokinase
Very frequent (80-99%)HP:0003236
Flexion contractures
Very frequent (80-99%)HP:0001371
Increased size of calf muscles
Very frequent (80-99%)HP:0008981
Intellectual impairment
Very frequent (80-99%)HP:0100543
Neurogenic muscle atrophy, especially in the lower limbs
Very frequent (80-99%)HP:0003202
No development of motor milestones
Very frequent (80-99%)HP:0001270
Progressive muscle weakness
Very frequent (80-99%)HP:0003323
Proximal limb muscle weakness
Very frequent (80-99%)HP:0003701
Respiratory insufficiency
Very frequent (80-99%)HP:0002093
Specific learning disability
Very frequent (80-99%)HP:0001328
Speech difficulties
Very frequent (80-99%)HP:0000750
Waddling gait
Very frequent (80-99%)HP:0002515
Alveolar hypoventilation
HP:0002791
Calf muscle pseudohypertrophy
HP:0003707
Cardiac arrhythmias
HP:0011675
Cardiac insufficiency
HP:0001635

Quick Facts

SNOMED CT
76670001
UMLS CUI
C0013264
Fully Specified Name
Duchenne muscular dystrophy (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Known Treatments
6
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.