Pure mitochondrial myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Childhood
- Status
- active
Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pure mitochondrial myopathy | |
| fr | Myopathie mitochondriale pure | |
| de | Myopathie, mitochondriale, reine | |
| es | Miopatía mitocondrial pura | |
| it | Miopatia mitocondriale pura | |
| nl | Zuivere mitochondriale myopathie | |
| pt | Miopatia mitocondrial pura | |
| pl | Czysta miopatia mitochondrialna | |
| cs | Čistá mitochondriální myopatie | |
| uk | Чиста мітохондріальна міопатія | |
| zh | 单纯线粒体肌病 | |
| tr | Saf mitokondriyal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | index | validated |
| MONDO | 0016807 | E | validated | |
| UMLS | C4517289 | 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:254788Mitochondrial DNA-related mitochondrial myopathy
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
33 annotations · validated 2019-01-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003551 | Difficulty climbing stairs | |
| HP:0009046 | Difficulty running | |
| HP:0003546 | Exercise intolerance | |
| HP:0003701 | Proximal muscle weakness | |
| Frequent (79-30%) | ||
| HP:0002460 | Distal muscle weakness | |
| HP:0009020 | Exercise-induced muscle fatigue | |
| HP:0030199 | Fatigable weakness of neck muscles | |
| HP:0002359 | Frequent falls | |
| HP:0003391 | Gowers sign | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0003722 | Neck flexor weakness | |
| HP:0003749 | Pelvic girdle muscle weakness | |
| HP:0007126 | Proximal amyotrophy | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003327 | Axial muscle weakness | |
| HP:0001488 | Bilateral ptosis | |
| HP:0001260 | Dysarthria | |
| HP:0030192 | Fatigable weakness of bulbar muscles | |
| HP:0030195 | Fatigable weakness of swallowing muscles | |
| HP:0002505 | Loss of ambulation | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0003394 | Muscle spasm | |
| HP:0003326 | Myalgia | |
| HP:0000590 | Progressive external ophthalmoplegia | |
| HP:0003731 | Quadriceps muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0000651 | Diplopia | |
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0003652 | Recurrent myoglobinuria | |
| HP:0003201 | Rhabdomyolysis | |
| HP:0003691 | Scapular winging | |
| HP:0002650 | Scoliosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 17825557[PMID]_9003864[PMID]_23911206[PMID]_1589382[PMID]_17951082[PMID]_1571086[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254854
- This record as JSON: /data/d/254854.json