Periodic paralysis with transient compartment-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare genetic neuromuscular channelopathy characterized by normokalemic episodes of painful muscle cramping followed by progressive, permanent, flaccid weakness, triggered by stress, cold and exercise, associated with myopathic myopathy and painful acute edema with neuronal compression, foot drop and muscle degeneration when located in the tibialis anterior muscle group.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Periodic paralysis with transient compartment-like syndrome | |
| fr | Paralysie périodique avec pseudo-syndrome des loges transitoire | |
| de | Periodische Paralyse mit transienten Kompartment-ähnlichem Syndrom | |
| es | Parálisis periódica con síndrome similar al compartimental transitorio | |
| it | Paralisi periodica con sindrome transitoria simil-compartimentale | |
| nl | Periodieke paralyse met voorbijgaand compartimentachtig syndroom | |
| pt | Paralisia periódica com síndrome compartimental -like transitória | |
| pl | Porażenie okresowe z przemijającym zespołem podobnym do zespołu ciasnoty | |
| cs | Periodická paralýza s tranzientním compartment-like syndromem | |
| uk | Періодичний параліч з транзиторним куперозним синдромом | |
| zh | 周期性麻痹伴短暂间隔室样综合征 | |
| tr | Geçici kompartman-benzeri sendromu ile seyreden periyodik paraliz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G72.3 | NTBT | attributed | validated |
| MONDO | 0018344 | E | validated | |
| UMLS | C4751572 | 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:371433Genetic periodic paralysis
rare genetic diseases - ORPHA:98740Neurological muscular channelopathy due to a genetic calcium channel defect
rare genetic diseases; rare neurological diseases - ORPHA:206976Periodic paralysis
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1S | Disease-causing germline mutation(s) in | Assessed | HGNC:1397 | ENSG00000081248 | 114208 | 1q32.1 | calcium voltage-gated channel subunit alpha1 S | 24240197[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24240197[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24240197[PMID] |
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/397755
- This record as JSON: /data/d/397755.json