Aliases & Classifications for Pseudomyotonia

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Aliases & Descriptions for Pseudomyotonia:

Name: Pseudomyotonia 45
 
Isaacs Syndrome 65

Classifications:



External Ids:

UMLS65 C0242287

Summaries for Pseudomyotonia

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MalaCards based summary: Pseudomyotonia, also known as isaacs syndrome, is related to cervicitis and charcot-marie-tooth disease, and has symptoms including neuromuscular pain, uvular spasm and trendelenburg's symptom. An important gene associated with Pseudomyotonia is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1). Affiliated tissues include heart, endothelial and skeletal muscle.

Related Diseases for Pseudomyotonia

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Diseases related to Pseudomyotonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1cervicitis10.0
2charcot-marie-tooth disease9.8
3tooth disease9.8
4myxedema9.8
5urethritis9.8
6hypothyroidism9.8
7myotonia congenita9.8
8spondylosis9.8
9laryngitis9.8
10neuropathy9.8
11myotonia9.8

Graphical network of diseases related to Pseudomyotonia:



Diseases related to pseudomyotonia

Symptoms for Pseudomyotonia

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UMLS symptoms related to Pseudomyotonia:


neuromuscular pain, uvular spasm, trendelenburg's symptom, muscle fibrosis, myokymia, diaphragmatic paresis, psoas sign, rectal tenesmus, myalgia, muscular stiffness, muscle weakness, chills, spasm, neuralgia, muscle spasticity, muscle rigidity, muscle cramp, muscular fasciculation

Drugs & Therapeutics for Pseudomyotonia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Inherited Myokymia: A Clinical and Genetic Study of a FamilyRecruitingNCT01250704
2Screening and Natural History: Primary Lateral Sclerosis and Related DisordersRecruitingNCT00015444

Search NIH Clinical Center for Pseudomyotonia

Genetic Tests for Pseudomyotonia

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Anatomical Context for Pseudomyotonia

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MalaCards organs/tissues related to Pseudomyotonia:

33
Heart, Endothelial, Skeletal muscle

Animal Models for Pseudomyotonia or affiliated genes

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Publications for Pseudomyotonia

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Articles related to Pseudomyotonia:

(show all 20)
idTitleAuthorsYear
1
Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle. (27210062)
2016
2
Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case. (26482047)
2015
3
Inhibition of Ubiquitin Proteasome System Rescues the Defective Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) Protein Causing Chianina Cattle Pseudomyotonia. (25288803)
2014
4
Frequency of bovine congenital pseudomyotonia carriers in selected Italian Chianina sires. (22627047)
2013
5
Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations. (23046865)
2012
6
Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. (20547455)
2010
7
A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle. (19116366)
2009
8
Congenital pseudomyotonia in Chianina cattle. (18723868)
2008
9
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease. (18786632)
2008
10
Decreased conduction velocity and pseudomyotonia in hexachlorobenzene-fed rats. (3596726)
1986
11
Pseudomyotonia of the striated urethral sphincter. (6684176)
1983
12
Neurogenic benign fasciculations, pseudomyotonia, and pseudotetany. A disease in search of a name. (7224912)
1981
13
Pseudomyotonia of the periurethral sphincter in women with urinary incontinence. (574563)
1979
14
Pseudomyotonia and tetany in a familial neuropathy resembling Charcot-Marie-Tooth disease. (757061)
1978
15
Laryngeal spasm complicating pseudomyotonia. (1267697)
1976
16
Hypothyroidism with subacute pseudomyotonia--an early form of Hoffmann's syndrome? Report of a case. (1166819)
1975
17
Cervical spondylosis and pseudomyotonia. (4421040)
1974
18
Pseudomyotonia in cervical root lesions with myelopathy. A sign of the misdirection of regenerating nerve. (4341307)
1972
19
Pseudomyotonia. (4195668)
1970
20
Myxedema, pseudomyotonia, and myotonia congenita. (13570720)
1958

Variations for Pseudomyotonia

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Expression for genes affiliated with Pseudomyotonia

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Search GEO for disease gene expression data for Pseudomyotonia.

Pathways for genes affiliated with Pseudomyotonia

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GO Terms for genes affiliated with Pseudomyotonia

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Sources for Pseudomyotonia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet