Becker muscular dystrophy
Findings
No curated finding names Becker muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
Definition from the Mondo Disease Ontology (MONDO:0010311), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Abnormal urinary colorHPOHP:0012086
- Very frequent (80% to 99% of cases)
- Difficulty climbing stairsHPOHP:0003551
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Exercise intoleranceHPOHP:0003546
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- MyalgiaHPOHP:0003326
- Very frequent (80% to 99% of cases)
- MyoglobinuriaHPOHP:0002913
- Very frequent (80% to 99% of cases)
- Abnormality of the lower limbHPOHP:0002814
- Frequent (30% to 79% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
- FallsHPOHP:0002527
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
Show the remaining 4
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Occasional (5% to 29% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Occasional (5% to 29% of cases)
- Tip-toe gaitHPOHP:0030051
- Occasional (5% to 29% of cases)
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 · 2015
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: Becker muscular dystrophy
- Also called
- Becker dystrophinopathyBecker muscular dystrophy, X-linked recessiveBMD