Ullrich congenital muscular dystrophy
Findings
No curated finding names Ullrich congenital muscular dystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
Definition from the Mondo Disease Ontology (MONDO:0000355), read 2026-09-29. CC BY 4.0.
Features
31 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 muscle fiber morphologyHPOHP:0004303
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Very frequent (80% to 99% of cases)
- Flexion contractureHPOHP:0001371
- Very frequent (80% to 99% of cases)
- Generalized muscle weaknessHPOHP:0003324
- Very frequent (80% to 99% of cases)
- Increased endomysial connective tissueHPOHP:0100297
- Very frequent (80% to 99% of cases)
- Increased laxity of fingersHPOHP:0006149
- Very frequent (80% to 99% of cases)
- Increased variability in muscle fiber diameterHPOHP:0003557
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- Spinal rigidityHPOHP:0003306
- Very frequent (80% to 99% of cases)
- Wrist hypermobilityHPOHP:0005072
- Very frequent (80% to 99% of cases)
Show the remaining 19
- Adducted thumbHPOHP:0001181
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Frequent (30% to 79% of cases)
- Diaphragmatic weaknessHPOHP:0009113
- Frequent (30% to 79% of cases)
- Elbow flexion contractureHPOHP:0002987
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
Genes
4 genes
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.
Where it sits
Other names
4 names
Resolves to: Ullrich congenital muscular dystrophy
- Also called
- scleroatonic muscular dystrophyscleroatonic Ullrich diseaseUCMDUllrich scleroatonic muscular dystrophy