symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Findings
No curated finding names symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
Definition from the Mondo Disease Ontology (MONDO:0016097), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Lumbar hyperlordosisHPOHP:0002938
- Frequent (30% to 79% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Frequent (30% to 79% of cases)
- Abnormality of the shoulder girdle musculatureHPOHP:0001435
- Occasional (5% to 29% of cases)
- Absent muscle dystrophin expressionHPOHP:0030097
- Occasional (5% to 29% of cases)
- Calf muscle hypertrophyHPOHP:0008981
- Occasional (5% to 29% of cases)
Show the remaining 6
- MyalgiaHPOHP:0003326
- Occasional (5% to 29% of cases)
- Quadriceps muscle weaknessHPOHP:0003731
- Occasional (5% to 29% of cases)
- Thoracic kyphosisHPOHP:0002942
- Occasional (5% to 29% of cases)
- Thoracic scoliosisHPOHP:0002943
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Very rare (1% to 4% of cases)
- Elbow flexion contractureHPOHP:0002987
- Very rare (1% to 4% 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
- Supportive · Orphanet · X-linked · 2021