Congenital myopathy, Paradas type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital muscular dystrophy characterized by early onset of hypotonia, delayed motor development, and variably progressive generalized muscle weakness. Predominant involvement of pelvic and neck flexor muscles has been reported, as well as early involvement of hamstrings and medial gastrocnemius visible on muscle MRI. Serum creatine kinase levels are markedly elevated (in some cases already from early childhood). Muscle biopsy shows absence of dysferlin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myopathy, Paradas type | |
| fr | Myopathie congénitale type Paradas | |
| de | Myopathie, kongenitale, Typ Paradas | |
| es | Miopatía congénita tipo Paradas | |
| it | Miopatia congenita tipo Paradas | |
| nl | Congenitale myopathie, Paradas-type | |
| pt | Miopatia congénita, tipo Paradas | |
| pl | Miopatia wrodzona, typ Paradasa | |
| cs | Vrozená myopatie, Paradasův typ | |
| uk | Вроджена міопатія, тип Парадаса | |
| zh | 先天性肌病Paradas型 | |
| tr | Doğumsal miyopati, Paradas tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0016049 | E | validated | |
| UMLS | C4511057 | 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:207073Qualitative or quantitative defects of dysferlin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYSF | Disease-causing germline mutation(s) in | Assessed | HGNC:3097 | ENSG00000135636 | 603009 | 2p13.2 | dysferlin | 19084402[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19084402[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19084402[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/199329
- This record as JSON: /data/d/199329.json