Autosomal dominant mitochondrial myopathy with exercise intolerance
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by onset of slowly progressive proximal lower limb weakness and exercise intolerance in the first decade of life, followed by weakness of neck flexor, shoulder, and distal leg muscles. Facial muscles become involved still later in the disease course. Additional manifestations are restrictive pulmonary function and short stature. Laboratory studies reveal lactic acidemia and increased serum creatine kinase.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant mitochondrial myopathy with exercise intolerance | |
| fr | Myopathie mitochondriale autosomique dominante avec intolérance à l'effort | |
| de | Autosomal-dominante mitochondriale Myopathie mit Belastungsintoleranz | |
| es | Miopatía mitocondrial autosómica dominante con intolerancia al ejercicio | |
| it | Miopatia mitocondriale autosomica dominante con intolleranza all'esercizio fisico | |
| nl | Autosomaal dominante mitochondriale myopathie met bewegingsintolerantie | |
| pt | Miopatia mitocondrial com intolerância ao exercício autossómica dominante | |
| pl | Autosomalna dominująca miopatia mitochondrialna z nietolerancją wysiłku | |
| cs | Autozomálně dominantní mitochondriální myopatie s intolerancí cvičení | |
| uk | Аутосомно-домінантна мітохондріальна міопатія з непереносимістю фізичних навантажень | |
| zh | 常染色体显性线粒体肌病伴运动性不耐受 | |
| tr | Egzersiz intoleransı ile seyreden otozomal dominant mitokondriyal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616209 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | attributed | validated |
| MONDO | 0014532 | E | validated | |
| UMLS | C4015513 | 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:254822Mitochondrial oxidative phosphorylation disorder with no known mechanism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHCHD10 | Disease-causing germline mutation(s) in | Assessed | HGNC:15559 | ENSG00000250479 | 615903 | 22q11.23 | coiled-coil-helix-coiled-coil-helix domain containing 10 | 25193783[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 9324076[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9324076[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
13 annotations · validated 2018-12-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003546 | Exercise intolerance | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0040014 | Increased mitochondrial number | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003722 | Neck flexor weakness | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0004322 | Short stature | |
| HP:0030319 | Weakness of facial musculature | |
| Occasional (29-5%) | ||
| HP:0008997 | Proximal muscle weakness in upper limbs | |
Annotation source: 25193783[PMID]_9324076[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/457050
- This record as JSON: /data/d/457050.json