Mitochondrial DNA-related mitochondrial myopathy
Synonyms: Maternally-inherited mitochondrial myopathy · mtDNA-related mitochondrial myopathy
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Mitochondrial inheritance
- Status
- active
A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial DNA-related mitochondrial myopathy | Maternally-inherited mitochondrial myopathy · mtDNA-related mitochondrial myopathy |
| fr | Myopathie due à une mutation de l'ADN mitochondrial | Myopathie due à une mutation de l'ADNmt · Myopathie mitochondriale de transmission maternelle |
| de | Mitochondriale Myopathie, mitochondriale DNA-assoziierte | Maternal vererbte mitochondriale Myopathie · mtDNA-assoziierte mitochondriale Myopathie |
| es | Miopatía mitocondrial asociada al ADN mitocondrial | Miopatía mitocondrial asociada al ADNmt · Miopatía mitocondrial de herencia materna |
| it | Miopatia mitocondriale correlata al DNA mitocondriale | |
| nl | Mitochondriaal DNA-gerelateerde mitochondriale myopathie | Maternaal overgeërfde mitochondriale myopathie · mtDNA-gerelateerde mitochondriale myopathie |
| pt | Miopatia mitocondrial ADN mitocondrial-relacionada | Miopatia mitocondrial ADNmt-relacionada · Miopatia mitocondrial com hereditariedade materna |
| pl | Miopatia mitochondialna dziedziczona od matki | = en |
| cs | Maternálně zděděná mitochondriální myopatie | = en |
| uk | Мітохондріальна міопатія, повязана з мітохондріальною ДНК | Мітохондріальна міопатія, успадкована від матері · мітохондріальна міопатія, повязана з мтДНК |
| zh | 线粒体DNA相关线粒体肌病 | 母系遗传的线粒体肌病 |
| tr | Mitokondriyal DNA -ilişkili mitokondriyal miyopati | mtDNA-ilişkili mitokondriyal miyopati · Maternal-geçişli mitokondriyal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16794 | E | validated | |
| UMLS | C5569013 | 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:254776Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254788
- This record as JSON: /data/d/254788.json