Potassium-aggravated myotonia
Synonyms: K+-aggravated myotonia · K-aggravated myotonia · PAM
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Potassium-aggravated myotonia | K+-aggravated myotonia · K-aggravated myotonia · PAM |
| fr | Myotonie aggravée par le potassium | MAP |
| de | Myotonie, Kalium-sensitive | |
| es | Miotonía agravada por potasio | Miotonía agravada por K · Miotonía agravada por K+ · PAM |
| it | Miotonia aggravata dal potassio | Miotonia aggravata dal K+ · Miotonia aggravata dal K- · PAM |
| nl | Kaliumgevoelige myotonie | K+-gevoelige myotonie · K-gevoelige myotonie · PAM |
| pt | Miotonia agravada pelo potássio | |
| pl | Miotonia potasozależna | = en |
| cs | Myotonie zhoršená podáním draslíku | Myotonie zhoršená K+ · Myotonie zhoršená draslíkem · PAM |
| uk | Міотонія, що посилюється при прийомі калію | K+-обтяжена міотонія · К-обтяжена міотонія · PAM |
| zh | 钾加重性肌强直 | 钾加重性肌强直 |
| tr | Potasyum- ağırlaşmış miyotoni | PAM · K-ağırlaşmış miyotoni · K + - ağırlaşmış miyotoni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608390 | E | validated | |
| MONDO | 0018959 | E | validated | |
| MONDO | 18959 | E | validated | |
| MeSH | C538353 | E | validated | |
| UMLS | C2931826 | E | validated | |
| GARD | 4459 | 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:206970Myotonic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98738Neurological muscular channelopathy due to a genetic sodium channel defect
rare genetic diseases; rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/612
- This record as JSON: /data/d/612.json