Rippling muscle disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rippling muscle disease | |
| fr | Rippling muscle disease | Maladie des muscles ondulants |
| de | Rippling-Muskel-Krankheit | RMD · Rippling-muscle-Krankheit |
| es | Enfermedad muscular ondulante | |
| it | Malattia da increspatura muscolare | |
| nl | Rippling-spierziekte | |
| pt | Doença de músculo rippling | |
| pl | Miopatia z falowaniem mięśni | |
| cs | Nemoc projevující se řetězovou reakcí svalových křečí a bolestí, ztuhlostí a pomalou relaxací svalů | |
| uk | Хвороба періодичних мязових спазмів | |
| zh | 波纹肌肉病 | |
| tr | Dalgalanan kas hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600332 | BTNT | validated | |
| OMIM | 606072 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C71.Y | NTBT | index | validated |
| UMLS | C1853698 | E | validated | |
| GARD | 9164 | E | validated | |
| MedDRA | 10069417 | 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:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207078Qualitative or quantitative defects of caveolin-3
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:265Autosomal dominant limb-girdle muscular dystrophy type 1C moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAV3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1529 | ENSG00000182533 | 601253 | 3p25.3 | caveolin 3 | 12557291[PMID]_15668980[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 59 cases | Worldwide | Case(s) | Validated | 7936247[PMID]_9537420[PMID]_11001938[PMID]_11756609[PMID]_12939441[PMID]_15668980[PMID]_16247063[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 7936247[PMID]_9537420[PMID]_11001938[PMID]_11756609[PMID]_12939441[PMID]_15668980[PMID]_16247063[PMID]_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/97238
- This record as JSON: /data/d/97238.json