ORPHA:99735
Myotonia permanens
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A very rare, persistent and more severe form of potassium-aggravated myotonia (PAM).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myotonia permanens | |
| fr | Myotonie permanente | |
| de | Myotonia permanens | |
| es | Miotonía permanente | |
| it | Miotonia permanente | |
| nl | Myotonia permanens | |
| pt | Miotonia permanens | |
| pl | Miotonia z objawami stałymi | |
| cs | Myotonia permanens | |
| uk | Міотонія перманентна | |
| zh | 肌强直持续状态 | |
| tr | Kalıcı 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 | 0020482 | E | validated | |
| UMLS | C5848361 | 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 | 8308722[PMID] |
5
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.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001276 | Hypertonia | |
| HP:0003394 | Muscle spasm | |
| HP:0002486 | Myotonia | |
| Frequent (79-30%) | ||
| HP:0003457 | EMG abnormality | |
| Occasional (29-5%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0002099 | Asthma | |
| HP:0100749 | Chest pain | |
| HP:0002015 | Dysphagia | |
| HP:0002094 | Dyspnea | |
| HP:0000286 | Epicanthus | |
| HP:0001288 | Gait disturbance | |
| HP:0003720 | Generalized muscle hypertrophy | |
| HP:0003307 | Hyperlordosis | |
| HP:0001249 | Intellectual disability | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0004322 | Short stature | |
| 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/99735
- This record as JSON: /data/d/99735.json