EPISODIC MUSCLE WEAKNESS, X-LINKED
General Information (adopted from Orphanet):
| Synonyms, Signs: |
EMWX |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
300211
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0001324) | Muscle weakness | obligate [HPO:skoehler] | 859 / 7739 | |||
|
|
(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Ryan et al. (1999) reported a family with clinical and pathologic features of a novel syndrome of episodic muscle weakness. Eight males in generations 2 and 4 demonstrated the features of the disorder, consistent with X-linked inheritance. Episodes ... |