adult-onset distal myopathy due to VCP mutation
Findings
No curated finding names adult-onset distal myopathy due to VCP mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.
Definition from the Mondo Disease Ontology (MONDO:0018006), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Distal muscle weaknessHPOHP:0002460
- Very frequent (80% to 99% of cases)
- Abnormality of the musculature of the lower limbsHPOHP:0001437
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- EMG: myopathic abnormalitiesHPOHP:0003458
- Frequent (30% to 79% of cases)
- FasciculationsHPOHP:0002380
- Frequent (30% to 79% of cases)
- Fatty replacement of skeletal muscleHPOHP:0012548
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weakness
Show the remaining 16
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- Necrotizing myopathyHPOHP:0008978
- Frequent (30% to 79% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Frequent (30% to 79% of cases)
- Rimmed vacuolesHPOHP:0003805
- Frequent (30% to 79% of cases)
- Scapular wingingHPOHP:0003691
- Frequent (30% to 79% of cases)
- Weakness of the intrinsic hand musclesHPOHP:0009005
- Frequent (30% to 79% 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.
- VCPHGNC:12666
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of