Adult-onset distal myopathy due to VCP mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset distal myopathy due to VCP mutation | |
| fr | Myopathie distale de l'adulte due à des mutations de VCP | |
| de | Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter | |
| es | Miopatía distal del adulto por una mutación en el gen VCP | |
| it | Miopatia distale da mutazione di VCP a esordio nell'età adulta | |
| nl | Distale myopathie door VCP-mutatie met aanvang op volwassen leeftijd | |
| pt | Miopatia distal por mutação VCP com início no adulto | |
| pl | Miopatia dystalna dorosłych wskutek mutacji VCP | |
| cs | Adultní distální myopatie způsobená mutací VCP | |
| uk | Дистальна міопатія у дорослих, зумовлена мутацією VCP | |
| zh | VCP基因突变致成人发病型远端型肌营养不良症 | |
| tr | VCP mutasyonuna bağlı yetişkin başlangıçlı distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0018006 | E | validated | |
| UMLS | C4749506 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VCP | Disease-causing germline mutation(s) in | Assessed | HGNC:12666 | ENSG00000165280 | 601023 | 9p13.3 | valosin containing protein | 21684747[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 21684747[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
30 annotations · validated 2019-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002460 | Distal muscle weakness | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001437 | Abnormality of the musculature of the lower limbs | |
| HP:0000726 | Dementia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0002380 | Fasciculations | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002359 | Frequent falls | |
| HP:0001288 | Gait disturbance | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0008978 | Necrotizing myopathy | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0003805 | Rimmed vacuoles | Diagnostic criterion |
| HP:0003691 | Scapular winging | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0003418 | Back pain | |
| HP:0002607 | Bowel incontinence | |
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000716 | Depression | |
| HP:0001349 | Facial diplegia | |
| HP:0001300 | Parkinsonism | |
| HP:0001337 | Tremor | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0002792 | Reduced vital capacity | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0003701 | Proximal muscle weakness | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21684747[PMID]_22040362[PMID]_26105173[PMID]_26574898[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329478
- This record as JSON: /data/d/329478.json