Mitochondrial myopathy-lactic acidosis-deafness syndrome
historical
Synonyms: Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- No data available
- Age of onset
- Childhood
- Status
- historical
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial myopathy-lactic acidosis-deafness syndrome | Mitochondrial myopathy-lactic acidosis-hearing loss syndrome |
| fr | Syndrome de myopathie mitochondriale-acidose lactique-surdité | |
| de | Mitochondriale Myopathie-Laktatazidose-Schwerhörigkeit-Syndrom | Syndrom der mitochondrialen Myopathie mit Laktatazidose und Hörverlust |
| es | Síndrome de miopatía mitocondrial-acidosis láctica-sordera | Síndrome de miopatía mitocondrial-acidosis láctica-hipoacusia |
| it | Miopatia mitocondriale - acidosi lattica - sordità | Miopatia mitocondriale - acidosi lattica - perdita di udito |
| nl | Mitochondriale myopathie - melkzuuracidose - doofheid-syndroom | Mitochondriale myopathie - melkzuuracidose - gehoorverlies-syndroom |
| pt | Síndrome de miopatia mitocondrial-acidose láctica-surdez | |
| pl | Miopatia mitochondrialna - kwasica mleczanowa - głuchota | Miopatia mitochondrialna - kwasica mleczanowa - utrata słuchu |
| cs | Syndrom zahrnující mitochondriální myopatii, laktátovou acidózu a hluchotu | Syndrom zahrnující mitochondriální myopatii, laktátovou acidózu a ztrátu sluchu |
| uk | Синдром мітохондріальної міопатії-молочнокислого ацидозу-глухоти | Синдром мітохондріальної міопатії-молочнокислого ацидозу-втрати слуху |
| zh | 线粒体肌病-乳酸酸中毒-耳聋综合征 | 线粒体肌病-乳酸酸中毒-听力丧失综合征 |
| tr | Mitokondriyal miyopati-laktik asidoz-sağırlık sendromu | Mitokondriyal miyopati-laktik asidoz-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251950 | NTBT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 8C73.Y | NTBT | attributed | validated |
| MONDO | 0016825 | E | validated | |
| MeSH | C537476 | E | validated | |
| UMLS | C4518539 | E | validated | |
| GARD | 3682 | 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 (3):
- ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:254837Unspecified mitochondrial disorder
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 4725145[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4725145[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003457 | EMG abnormality | |
| HP:0003348 | Hyperalaninemia | |
| HP:0001942 | Metabolic acidosis | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0003198 | Myopathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0004320 | Vaginal fistula | |
| Frequent (79-30%) | ||
| HP:0001250 | Seizure | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2597
- This record as JSON: /data/d/2597.json