Spheroid body myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spheroid body myopathy | |
| fr | Myopathie à corps sphéroïdes | |
| de | Sphäroidkörper-Myopathie | |
| es | Miopatía por cuerpos esferoides | |
| it | Miopatia con corpi sferoidi | |
| nl | 'Spheroid body'-myopathie | |
| pt | Miopatia com corpos esferóides | |
| pl | Miopatia z ciałkami sferoidalnymi | |
| cs | Myopatie sféroidních tělísek | |
| uk | Міопатія зі сфероподібними тільцями | |
| zh | 球状体肌病 | |
| tr | Sfero vücut miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609200 | NTBT | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MeSH | C000598645 | E | validated | |
| UMLS | C1866785 | E | validated | |
| GARD | 8711 | 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:209224Myotilinopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYOT | Disease-causing germline mutation(s) in | Assessed | HGNC:12399 | ENSG00000120729 | 604103 | 5q31.2 | myotilin | 16380616[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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/268129
- This record as JSON: /data/d/268129.json