Fingerprint body myopathy
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fingerprint body myopathy | |
| fr | Myopathie à empreintes digitales | Myopathie avec inclusions en empreinte digitale |
| de | Fingerprint-Body-Myopathie | |
| es | Miopatía con inclusiones en huella dactilar | |
| it | Miopatia con corpi a impronta digitale | |
| nl | Fingerprint body-myopathie | |
| pt | Miopatia com corpos em forma de impressão digital | |
| pl | Miopatia "odcisków palców | |
| cs | Fingerprint body myopatie | |
| uk | Міопатія з тільцями типу відбитків пальців | |
| zh | 指纹体肌病 | |
| tr | Parmak izi vücut miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 305550 | E | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.Y | NTBT | index | validated |
| MONDO | 0010591 | E | validated | |
| MeSH | C564425 | E | validated | |
| UMLS | C1844560 | E | validated | |
| GARD | 12720 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological 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 | 20 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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/97232
- This record as JSON: /data/d/97232.json