Pseudomyotonia malady

MalaCards: Pseudomyotonia, also known as isaacs syndrome, is related to episodic ataxia and continuous muscle fiber activity hereditary. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1).

pseudomyotonia 30 isaacs syndrome 43

Diseases related to pseudomyotonia by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	episodic ataxia	7.2
2	continuous muscle fiber activity hereditary	6.3
3	ocular neuromyotonia	6.3
4	stiff-person syndrome	6.3

Approved drugs:

Drug clinical trials:

Articles related to pseudomyotonia:

id	Title	Authors	Year	Affiliating Genes
1	A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (19116366)	Sacchetto R.... Mascarello F.	2009	ATP2A1
2	Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. (18786632)	Drogemuller C.... Sacchetto R.	2008	ATP2A1

Genes related to pseudomyotonia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ATP2A1	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	11.0	Publications, Disorders