Congenital myopathy with internal nuclei and atypical cores
Synonyms: CNM4 · Centronuclear myopathy type 4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myopathy with internal nuclei and atypical cores | CNM4 · Centronuclear myopathy type 4 |
| fr | Myopathie congénitale avec noyaux centrés et cores atypiques | CNM4 · Myopathie centronucléaire de type 4 |
| de | Kongenitale Myopathie mit internen Nuclei und atypischen Kernen | CNM4 · Myopathie, zentronukleäre, Typ 4 |
| es | Miopatía congénita con núcleos internos y cores atípicos | CNM4 · Miopatía centronuclear tipo 4 |
| it | Miopatia congenita con nuclei interni e core atipici | CNM4 · Miopatia centronucleare, tipo 4 |
| nl | Congenitale myopathie met interne nuclei en atypische kernen | CNM4 · Centronucleaire myopathie type 4 |
| pt | Miopatia congénita com núcleos internos e centros atípicos | CNM4 · Miopatia centronuclear tipo 4 |
| pl | Miopatia wrodzona z ośrodkowo ułożonymi jądrami i atypowymi jądrami | CNM4 · Miopatia z ośrodkowo ułożonymi jądrami typu 4 |
| cs | Centronukleární myopatie, typ 4 | CNM4 |
| uk | Вроджена міопатія з внутрішніми ядрами та атиповими ядрами | Центронуклеарна міопатія типу 4 · CNM4 |
| zh | 先天性中央核和非典型核肌病 | 中心核肌病4型 |
| tr | İnternal çekirdekler ile atipik merkezli doğumsal miyopati | CNM4 · Sentronükleer miyopati tip 4 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614807 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0013890 | E | validated | |
| UMLS | C4707232 | 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:595Centronuclear myopathy
rare genetic diseases; rare neurological diseases - ORPHA:172976Congenital myopathy with cores
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC78 | Disease-causing germline mutation(s) in | Assessed | HGNC:14153 | ENSG00000162004 | 614666 | 16p13.3 | coiled-coil domain containing 78 | 22818856[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 22818856[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22818856[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319160
- This record as JSON: /data/d/319160.json