Zebra body myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the <i>alpha-skeletal actin</i> (<i>ACTA1</i>) gene may be involved.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Zebra body myopathy | |
| fr | Myopathie à corps zébrés | |
| de | Zebra-Körperchen-Myopathie | |
| es | Miopatía con cuerpos cebra | |
| it | Miopatia con corpi zebrati | |
| nl | Zebra body-myopathie | |
| pt | Miopatia com corpos com padrão de zebra | |
| pl | Miopatia z ciałkami typu zebra | |
| cs | Zebra body myopatie | |
| uk | Міопатія з тільцями типу зебри | |
| zh | 斑马体肌病 | |
| tr | Zebra vücut miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C72.0Y | NTBT | index | validated |
| MONDO | 0019949 | E | validated | |
| UMLS | C0270969 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:129 | ENSG00000143632 | 102610 | 1q42.13 | actin alpha 1, skeletal muscle | 25747004[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 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
22 annotations · validated 2016-09-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003736 | Autophagic vacuoles | |
| HP:0003327 | Axial muscle weakness | |
| HP:0001558 | Decreased fetal movement | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0010628 | Facial palsy | |
| HP:0001263 | Global developmental delay | |
| HP:0003391 | Gowers sign | |
| HP:0012899 | Handgrip myotonia | |
| HP:0006785 | Limb-girdle muscular dystrophy | |
| HP:0003555 | Muscle fiber splitting | |
| HP:0003715 | Myofibrillar myopathy | |
| HP:0000467 | Neck muscle weakness | |
| HP:0003798 | Nemaline bodies | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0000473 | Torticollis | |
| HP:0002515 | Waddling gait | |
| Frequent (79-30%) | ||
| HP:0003713 | Muscle fiber necrosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 25747004[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97240
- This record as JSON: /data/d/97240.json