Megaconial congenital muscular dystrophy
Synonyms: Congenital megaconial myopathy · Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect · Congenital muscular dystrophy with mitochondrial structural abnormalities
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megaconial congenital muscular dystrophy | Congenital megaconial myopathy · Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect · Congenital muscular dystrophy with mitochondrial structural abnormalities |
| fr | Dystrophie musculaire congénitale mégaconiale | Dystrophie musculaire congénitale avec anomalies de la structure mitochondriale · Dystrophie musculaire congénitale par défaut de biosynthèse de la phosphatidylcholine · Myopathie mégaconiale congénitale |
| de | Muskeldystrophie, megakoniale kongenitale | Kongenitale Muskeldystrophie mit mitochondrialen Strukturanomalien · Megakoniale Myopathie, kongenitale · Muskeldystrophie, kongenitale, durch Phosphatidylcholin-Biosynthesestörung |
| es | Distrofia muscular congénita megaconial | Distrofia muscular congénita con anomalías mitocondriales estructurales · Distrofia muscular congénita por un defecto de la biosíntesis de fosfatidilcolina · Miopatía megaconial congénita |
| it | Distrofia muscolare megaconiale congenita | Distrofia muscolare congenita con anomalie strutturali dei mitocondri · Distrofia muscolare congenita da difetto della biosintesi della fosfatidilcolina · Miopatia megaconiale congenita |
| nl | Megaconiale congenitale musculaire dystrofie | Megaconiale congenitale spierdystrofie · Congenitale megaconiale myopathie · Congenitale musculaire dystrofie door een fosfatidylcholinebiosynthesedefect · Congenitale musculaire dystrofie met mitochondriale structurele afwijkingen · Congenitale spierdystrofie door een fosfatidylcholinebiosynthesedefect |
| pt | Distrofia muscular congénita por deficiência na biossíntese de fosfatidil-colina | |
| pl | Wrodzona dystrofia mięśniowa z powodu defektu biosyntezy fosfatydylocholiny | Wrodzona dystrofia mięśni typu megaconial · Wrodzona dystrofia mięśniowa z zaburzeniami struktury mitochondriów · Wrodzona miopatia typu megaconial |
| cs | Vrozená muskulární dystrofie způsobená poruchou syntézy fosfatidylcholinu | = en |
| uk | Мегаконіальна вроджена мязова дистрофія | Вроджена мегаконіальна міопатія · Вроджена мязова дистрофія внаслідок дефекту біосинтезу фосфатидилхоліну · Вроджена мязова дистрофія з мітохондріальними структурними аномаліями |
| zh | MEGACONIAL型先天性肌营养不良 | 磷脂酰胆碱生物合成缺陷所致先天性肌营养不良 |
| tr | Megakonial Doğumsal kas distrofisi | Doğumsal megakoniyal miyopati · Mitokondriyal yapısal anormallikler ile seyreden doğumsal kas distrofisi · Fosfatidilkolin biyosentez defektine bağlı doğumsal kas distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602541 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0011246 | E | validated | |
| MeSH | C566527 | E | validated | |
| UMLS | C1865233 | E | validated | |
| GARD | 10317 | 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 (2):
- ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:352312Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
rare inborn errors of metabolism; rare genetic 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 | 21665002[PMID]_22782513[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 23945283[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/280671
- This record as JSON: /data/d/280671.json