Cramp-fasciculation syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare genetic neurological disorder characterized by adult onset of peripheral nerve hyperexcitability causing painful muscle cramps and fasciculations in the limbs, hyperreflexia, stiffness, and muscle pain. Other hypersensitivity-hyperexcitability symptoms are asthma, gastroesophageal reflux, migraine, tremor, cold hyperalgesia, and cardiac conduction defects. Autonomic signs and symptoms, neuropathic pain, cognitive deficits, and anxiety are also observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cramp-fasciculation syndrome | |
| fr | Syndrome crampes-fasciculations | |
| de | Krampus-Faszikulationssyndrom | Myalgie-Faszikulations-Krampus-Syndrom |
| es | Síndrome de calambres-fasciculaciones | |
| it | Sindrome da crampi e fascicolazioni | |
| nl | Spierkramp - fasciculatie-syndroom | |
| pt | Síndrome cãibra-fasciculação | |
| pl | Zespół kurczowo-fascykulacyjny | |
| cs | Syndrom křečí a fascikulace | |
| uk | Судомно-фасцикуляторний синдром | |
| zh | 肌痛性痉挛-肌束震颤综合征 | |
| tr | Kramp-fasikülasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604775 | E | validated | |
| ICD-10 | G90.8 | NTBT | attributed | validated |
| MONDO | 0035586 | E | validated | |
| UMLS | C0751381 | E | validated | |
| GARD | 6205 | E | validated | |
| MedDRA | 10081974 | 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 (3):
- ORPHA:98750Autoimmune neurological channelopathy
rare neurological diseases - ORPHA:423662Rare autonomic nervous system disorder
rare neurological diseases - ORPHA:434786Rare genetic autonomic nervous system disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:497 | ENSG00000104321 | 604775 | 8q21.11 | transient receptor potential cation channel subfamily A member 1 | 28436534[PMID] |
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/581271
- This record as JSON: /data/d/581271.json