Proximal myopathy with focal depletion of mitochondria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal myopathy with focal depletion of mitochondria | |
| fr | Myopathie proximale avec déplétion mitochondriale focale | |
| de | Proximale Myopathie mit fokaler mitochondrialer Depletion | |
| es | Miopatía proximal con depleción mitocondrial focal | |
| it | Miopatia prossimale con deplezione focale dei mitocondri | |
| nl | Proximale myopathie met focale depletie van mitochondria | |
| pt | Miopatia proximal com deplecção mitocondrial focal | |
| pl | Miopatia proksymalna z ogniskowym wyczerpaniem puli mitochondrialnej | |
| cs | Proximální myopatie s fokální deplecí mitochondrií | |
| uk | Проксимальна міопатія з фокальним виснаженням мітохондрій | |
| zh | 线粒体局灶性耗竭的近端肌病 | |
| tr | Mitokondrinin fokal deplesyonu ile seyreden proksimal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600706 | E | validated | |
| ICD-10 | G72.8 | NTBT | attributed | validated |
| MONDO | 0010923 | E | validated | |
| MeSH | C563453 | E | validated | |
| UMLS | C1833453 | 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:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHKB | Disease-causing germline mutation(s) in | Assessed | HGNC:1938 | ENSG00000100288 | 612395 | 22q13.33 | choline kinase beta | 26782016[PMID]_27169979[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26782016[PMID]_27169979[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26782016[PMID]_27169979[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521305
- This record as JSON: /data/d/521305.json