Duchenne muscular dystrophy
Findings
No curated finding names Duchenne muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Definition from the Mondo Disease Ontology (MONDO:0010679), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- Calf muscle hypertrophyHPOHP:0008981
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Difficulty climbing stairsHPOHP:0003551
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Hamstring contracturesHPOHP:0003089
- 1 of 1 reported patient
Show the remaining 14
- Tip-toe gaitHPOHP:0030051
- 1 of 1 reported patient
- Waddling gaitHPOHP:0002515
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- CardiomyopathyHPOHP:0001638
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DMDHGNC:2928
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · G2P · X-linked · 2015
- Definitive · Natera · X-linked recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Duchenne muscular dystrophy
- Also called
- DMDDuchenne muscular dystrophy, X-linked recessivesevere dystrophinopathy, Duchenne type