Symbol
| HYKPP
|
Location
| 17q23.3
|
Name
|
hyperkalemic periodic paralysis |
Other name(s)
|
Gamstorp disease
adynamia episodica hereditaria with or without myotonia |
Corresponding gene
|
SCN4A
|
Other symbol(s)
| HYPP
|
Main clinical features
|
myotonia, allelic to paramyotonia congenita (see PMC)
acetazolamide responsive myotonia congenita
isolated adynamia episodica hereditaria without myotonia
myotonia fluctuans permanens characterized by worsenting myotonia of delayed delay after exercise, with no influence of exposure to cold |
Genetic determination
| autosomal dominant |
Related entries
| including cases of potassium-sensitive and normokalemic type of periodic paralysis
|
Function/system disorder
| neuromuscular |
Type
| disease
|