ORPHA:99736
Acetazolamide-responsive myotonia
Synonyms: ACZ-responsive congenital myotonia · ACZ-responsive myotonia · Acetazolamide-responsive congenital myotonia · Myotonia-painful contractions syndrome · Painful congenital myotonia · Painful myotonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acetazolamide-responsive myotonia | ACZ-responsive congenital myotonia · ACZ-responsive myotonia · Acetazolamide-responsive congenital myotonia · Myotonia-painful contractions syndrome · Painful congenital myotonia · Painful myotonia |
| fr | Myotonie sensible à l'acétazolamide | Myotonie avec crampes douloureuses · Myotonie douloureuse · Myotonie répondant à l'ACZ · Myotonie répondant à l'acétazolamide · Myotonie sensible à l'ACZ |
| de | Myotonia congenita, Azetazolamidempfindliche | |
| es | Miotonía sensible a la acetazolamida | Miotonía congénita dolorosa · Miotonía congénita sensible a la ACZ · Miotonía congénita sensible a la acetazolamida · Miotonía dolorosa · Miotonía sensible a la ACZ · Miotonía-contracciones dolorosas |
| it | Miotonia sensibile all'acetazolamide | Miotonia - contrazioni dolorose · Miotonia congenita dolorosa · Miotonia congenita sensibile all'ACZ · Miotonia congenita sensibile all'acetazolamide · Miotonia dolorosa · Miotonia sensibile all'ACZ |
| nl | Acetazolamideresponsieve myotonie | ACZ-responsieve congenitale myotonie · ACZ-responsieve myotonie · Acetazolamideresponsieve congenitale myotonie · Myotonie - pijnlijke contracties-syndroom · Pijnlijke congenitale myotonie · Pijnlijke myotonie |
| pt | Miotonia sensível a acetalozamida | Miotonia congénita sensível a acetalozamida |
| pl | Miotonia reagująca na acetazolamid | Miotonia - bolesne przykurcze · Miotonia bolesna · Miotonia reagująca na ACZ · Miotonia wrodzona wrażliwa na ACZ · Wrodzona miotonia bolesna · Wrodzona miotonia reagująca na acetazolamid |
| cs | Acetazolamid responzivní myotonie | ACZ responzivní vrozená myotonie · ACZ responzivní myotonie · Acetazolamid responzivní vrozená myotonie · Syndrom zahrnující myotonii a bolestivé kontrakce · Bolestivá vrozená myotonie · Bolestivá myotonie |
| uk | Міотонія, чутлива до ацетазоламіну | Вроджена міотонія, що реагує на ацетазоламіди · Вроджена міотонія, що реагує на ACZ · Міотонія, що реагує на ACZ · Синдром міотонії - болісних спазмів · Болісна вроджена міотонія · Болісна міотонія |
| zh | 乙酰唑胺反应性肌强直 | 乙酰唑胺反应性先天性肌强直 |
| tr | Asetazolamide duyarlı miyotoni | Ağrılı miyotoni · ACZ-duyarlı miyotoni · Ağrılı doğumsal miyotoni · ACZ-duyarlı doğumsal miyotoni · Miyotoni-ağrılı kasılma sendromu · Asetazolamide-duyarlı doğumsal miyotoni |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608390 | NTBT | validated | |
| ICD-10 | G71.1 | NTBT | attributed | validated |
| ICD-11 | 8C71.2 | NTBT | index | validated |
| MONDO | 0020483 | E | validated | |
| UMLS | C4275008 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:612Potassium-aggravated myotonia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCN4A | Disease-causing germline mutation(s) in | Assessed | HGNC:10591 | ENSG00000007314 | 603967 | 17q23.3 | sodium voltage-gated channel alpha subunit 4 | 8058156[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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.
6
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001276 | Hypertonia | |
| HP:0003326 | Myalgia | |
| HP:0002486 | Myotonia | |
| Frequent (79-30%) | ||
| HP:0100749 | Chest pain | |
| HP:0003457 | EMG abnormality | |
| HP:0003394 | Muscle spasm | |
| Occasional (29-5%) | ||
| HP:0002015 | Dysphagia | |
| HP:0001288 | Gait disturbance | |
| HP:0000821 | Hypothyroidism | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0003712 | Skeletal muscle hypertrophy | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99736
- This record as JSON: /data/d/99736.json