Benign Samaritan congenital myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Benign Samaritan congenital myopathy | |
| fr | Myopathie congénitale bénigne des Samaritains | |
| de | Myopathie, benigne, Typ Samariter | Samariter-Myopathie, kongenitale |
| es | Miopatía congénita benigna del samaritano | |
| it | Miopatia congenita benigna del Samaritano | |
| nl | Goedaardige Samaritaanse congenitale myopathie | |
| pt | Miopatia congénita benigna do Samaritano | |
| pl | Łagodna wrodzona miopatia Samarytan | |
| cs | Benigní samaritánská vrozená myopatie | |
| uk | Доброякісна самаритянська вроджена міопатія | |
| zh | 良性撒马利亚先天性肌病 | |
| tr | Selim Samaritan doğumsal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0017936 | E | validated | |
| UMLS | C4749502 | 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:97245Congenital myopathy
rare genetic diseases; rare neurological diseases - ORPHA:98742Neurological muscular channelopathy due to a genetic ryanodine receptor defect
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RYR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10483 | ENSG00000196218 | 180901 | 19q13.2 | ryanodine receptor 1 | 22752422[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22752422[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
19 annotations · validated 2018-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000286 | Epicanthus | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000316 | Hypertelorism | |
| HP:0001265 | Hyporeflexia | |
| HP:0000341 | Narrow forehead | |
| Frequent (79-30%) | ||
| HP:0001270 | Motor delay | |
| HP:0001072 | Thickened skin | |
| HP:0001612 | Weak cry | |
| Occasional (29-5%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0000268 | Dolichocephaly | |
| HP:0002380 | Fasciculations | |
| HP:0031139 | Frog-leg posture | |
| HP:0031237 | Internally nucleated skeletal muscle fibers | |
| HP:0001254 | Lethargy | |
| HP:0002058 | Myopathic facies | |
| HP:0000160 | Narrow mouth | |
| HP:0011220 | Prominent forehead | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 16959509[PMID]_22752422[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324581
- This record as JSON: /data/d/324581.json