Congenital myopathy with myasthenic-like onset
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital myopathy with myasthenic-like onset | |
| fr | Myopathie congénitale à début pseudo-myasthénique | |
| de | Kongenitale Myopathie mit Myasthenie-ähnlichem Beginn | |
| es | Miopatía congénita con inicio similar al miasténico | |
| it | Miopatia congenita a esordio simil-miastenico | |
| nl | Congenitale myopathie met myasthenie-achtige aanvang | |
| pt | Miopatia congénita com início semelhante à miastenia | |
| pl | Miopatia wrodzona o początku podobnym do miastenii | |
| cs | Vrozená myopatie s nástupem podobným myastenii | |
| uk | Вроджена міопатія з міастенічним початком | |
| zh | 先天性肌病伴肌无力样发作 | |
| tr | Miyastenik benzeri başlangıç ile seyreden doğumsal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| MONDO | 0018528 | E | validated | |
| UMLS | C4706390 | 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 | 24951453[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24951453[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24951453[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003473 | Fatigable weakness | |
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0008936 | Axial hypotonia | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003388 | Easy fatigability | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001288 | Gait disturbance | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0003789 | Minicore myopathy | |
| HP:0001270 | Motor delay | |
| HP:0002828 | Multiple joint contractures | |
| HP:0002058 | Myopathic facies | |
| HP:0003198 | Myopathy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0000508 | Ptosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0003691 | Scapular winging | |
| HP:0002650 | Scoliosis | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Very rare (<4-1%) | ||
| HP:0000602 | Ophthalmoplegia | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| Excluded (0%) | ||
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0040191 | Rectus femoris muscle atrophy | |
| HP:0003201 | Rhabdomyolysis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24951453[PMID]_21482111[PMID]_29556213[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/424107
- This record as JSON: /data/d/424107.json