loading...| Preferred Name | Normokalemic Periodic Paralysis | |
| Synonyms |
Normokalemic Periodic Paralysis NormoKPP |
|
| Definitions |
An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122791 |
|
| code |
C122791 |
|
| DEFINITION |
An autosomal dominant inherited non-dystrophic myotonia caused by mutations of the SCN4A gene, resulting in sodium muscle channelopathy. Currently, it is considered a variant of hyperkalemic periodic paralysis. Patients with normokalemic periodic paralysis do not have any change in their potassium levels during weakness, but become weak when they ingest potassium. |
|
| FULL_SYN |
Normokalemic Periodic Paralysis NormoKPP |
|
| label |
Normokalemic Periodic Paralysis |
|
| Preferred_Name |
Normokalemic Periodic Paralysis |
|
| prefixIRI |
Thesaurus:C122791 |
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| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0268445 |
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| subClassOf |