Rippling muscle disease with myasthenia gravis
Synonyms: Acquired rippling muscle disease · Immune-mediated rippling muscle disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
Rippling muscle disease with myasthenia gravis is a rare, acquired, neuromuscular disease characterized by <i>CAV3</i> mutation-negative rippling muscle disease in association with acetylcholine receptor antibody-mediated myasthenia gravis. Patients typically present exercise-induced, electrically-silent muscle rippling with myalgia, in combination with generalized myasthenia gravis symptoms (ptosis, diplopia, neck weakness, dysphagia and dyspnea).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rippling muscle disease with myasthenia gravis | Acquired rippling muscle disease · Immune-mediated rippling muscle disease |
| fr | Rippling muscle disease avec myasthenia gravis | |
| de | Rippling-Muskel-Krankheit mit Myasthenia gravis | Rippling-Muskel-Krankheit, erworbene · Rippling-Muskel-Krankheit, immunvermittelte |
| es | Enfermedad muscular ondulante asociada a miastenia gravis | Enfermedad muscular ondulante adquirida · Enfermedad muscular ondulante inmunomediada |
| it | Malattia da increspatura muscolare con miastenia grave | Malattia da increspatura muscolare immunomediata · Miopatia con increspatura muscolare con miastenia gravis |
| nl | Rippling-spierziekte met myasthenia gravis | Immuun-gemedieerde golvende spierziekte · Verworven golvende spierziekte |
| pt | Doença muscular com ondulações com miastenia grave | |
| pl | Miopatia z falowaniem mięśni z miastenią | Immunozależna miopatia z falowaniem mięśni · Nabyta miopatia z falowaniem mięśni |
| cs | Rippling muscle disease s myasthenia gravis | Získaná rippling muscle disease · Imunitně mediovaná rippling muscle disease |
| uk | Хвороба періодичних мязових спазмів при міастенії гравіс | Набута хвороба пульсуючих мязів · Імуноопосередкована хвороба пульсації мязів |
| zh | 波纹肌病伴重症肌无力 | 免疫介导的波纹肌病 |
| tr | Miyastenia gravis ile seyreden dalgalanan kas hastalığı | Edinsel dalgalı kas hastalığı · Bağışıklık-aracılı dalgalı kas hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G70.8 | NTBT | attributed | validated |
| ICD-11 | 8C60.Y | NTBT | index | validated |
| MONDO | 0016100 | E | validated | |
| UMLS | C4749335 | 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:464764Immune-mediated acquired neuromuscular junction disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206575
- This record as JSON: /data/d/206575.json