MCID: PRD017
MIFTS: 24

Periodic Paralyses

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Periodic Paralyses

MalaCards integrated aliases for Periodic Paralyses:

Name: Periodic Paralyses 53

Classifications:



Summaries for Periodic Paralyses

NINDS : 53 Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal. The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.

MalaCards based summary : Periodic Paralyses is related to myotonia and periodic paralysis. An important gene associated with Periodic Paralyses is SCN4A (Sodium Voltage-Gated Channel Alpha Subunit 4), and among its related pathways/superpathways are Cardiac conduction and Dopamine-DARPP32 Feedback onto cAMP Pathway. The drugs Dichlorphenamide and Carbonic Anhydrase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and heart, and related phenotype is respiratory system.

Related Diseases for Periodic Paralyses

Diseases in the Periodic Paralyses family:

Familial Periodic Paralyses

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 myotonia 30.8 SCN4A GH-LCR
2 periodic paralysis 30.8 SCN4A KCNJ2 KCNE3 CACNA1S
3 hypokalemic periodic paralysis, type 1 30.3 SCN4A KCNJ2 KCNE3 GH-LCR CACNA1S
4 hyperkalemic periodic paralysis 30.3 SCN4A KCNJ2 KCNE3 GH-LCR CACNA1S
5 myotonia, potassium-aggravated 30.1 SCN4A GH-LCR
6 hypokalemic periodic paralysis, type 2 30.0 SCN4A GH-LCR
7 hypokalemia 29.7 SCN4A CACNA1S
8 malignant hyperthermia 29.7 SCN4A CACNA1S
9 graves disease 1 29.7 SCN4A CACNA1S
10 batten-turner congenital myopathy 29.6 SCN4A CACNA1S
11 long qt syndrome 29.5 SCN4A KCNJ2 KCNE3
12 thyrotoxic periodic paralysis 29.3 SCN4A KCNJ2 CACNA1S
13 andersen cardiodysrhythmic periodic paralysis 29.2 SCN4A KCNJ2 KCNE3 CACNA1S
14 myotonia congenita 29.1 SCN4A KCNJ2 GH-LCR CACNA1S
15 paramyotonia congenita of von eulenburg 29.0 SCN4A KCNJ2 KCNE3 GH-LCR CACNA1S
16 congenital myasthenic syndrome 28.8 SCN4A KCNJ2 GH-LCR CACNA1S
17 familial periodic paralysis 28.4 SCN4A KCNJ2 KCNE3 GH-LCR CACNA1S
18 familial periodic paralyses 11.6
19 myopathy 10.3
20 renal tubular acidosis 10.1
21 myotonic disease 10.1
22 nondystrophic myotonia 10.1
23 normokalemic periodic paralysis 10.0 SCN4A GH-LCR
24 myasthenic syndrome, congenital, 16 10.0 SCN4A GH-LCR
25 joubert syndrome 17 10.0 SCN4A GH-LCR
26 cardiac arrhythmia 10.0
27 ataxia and polyneuropathy, adult-onset 10.0
28 charcot-marie-tooth disease 10.0
29 tooth disease 10.0
30 quadriplegia 10.0
31 neuromuscular disease 10.0
32 nephrolithiasis 10.0
33 hyperthyroidism 10.0
34 myotonic dystrophy 10.0
35 distal renal tubular acidosis 10.0
36 long qt syndrome 3 9.9 SCN4A KCNJ2
37 long qt syndrome 5 9.9 KCNJ2 KCNE3
38 long qt syndrome 6 9.9 KCNJ2 KCNE3
39 short qt syndrome 9.9 KCNJ2 KCNE3
40 neuropathy, hereditary sensory and autonomic, type vii 9.9 SCN4A CACNA1S
41 jervell and lange-nielsen syndrome 1 9.9 KCNJ2 KCNE3
42 malignant hyperthermia susceptibility 9.8 SCN4A CACNA1S
43 long qt syndrome 2 9.8 KCNJ2 KCNE3
44 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8 GH-LCR CACNA1S
45 metal metabolism disorder 9.8 SCN4A CACNA1S
46 catecholaminergic polymorphic ventricular tachycardia 9.7 KCNJ2 KCNE3
47 timothy syndrome 9.7 KCNJ2 CACNA1S
48 long qt syndrome 1 9.7 SCN4A KCNJ2 KCNE3
49 heart conduction disease 9.7 SCN4A KCNJ2 KCNE3
50 episodic ataxia 9.6 SCN4A GH-LCR CACNA1S

Graphical network of the top 20 diseases related to Periodic Paralyses:



Diseases related to Periodic Paralyses

Symptoms & Phenotypes for Periodic Paralyses

MGI Mouse Phenotypes related to Periodic Paralyses:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 8.92 CACNA1S KCNE3 KCNJ2 SCN4A

Drugs & Therapeutics for Periodic Paralyses

Drugs for Periodic Paralyses (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dichlorphenamide Approved, Investigational Phase 3 120-97-8 3038
2 Carbonic Anhydrase Inhibitors Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Dichlorphenamide for Periodic Paralyses and Associated Sodium Channel Disorders Completed NCT00004802 Phase 3 dichlorphenamide

Search NIH Clinical Center for Periodic Paralyses

Genetic Tests for Periodic Paralyses

Anatomical Context for Periodic Paralyses

MalaCards organs/tissues related to Periodic Paralyses:

40
Skeletal Muscle, Heart

Publications for Periodic Paralyses

Articles related to Periodic Paralyses:

(show top 50) (show all 129)
# Title Authors PMID Year
1
Sodium Channelopathies of Skeletal Muscle and Brain. 61
33769100 2021
2
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. 61
33199157 2021
3
Skeletal muscle channelopathies: a guide to diagnosis and management. 61
33563766 2021
4
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine. 61
33325393 2020
5
Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients. 61
33573884 2020
6
Skeletal Muscle Channelopathies. 61
32703462 2020
7
Primary Periodic Paralyses: A Review of Etiologies and Their Pathogeneses. 61
33005530 2020
8
A new clinical entity in T704M mutation in periodic paralysis. 61
32336642 2020
9
Prolonged Exercise Test in Patients With History of Thyrotoxicosis. 61
32773648 2020
10
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients. 61
32849172 2020
11
Treatment Updates for Neuromuscular Channelopathies. 61
32848354 2020
12
Efficacy and Safety of Dichlorphenamide for Primary Periodic Paralysis in Adolescents Compared With Adults. 61
31570296 2019
13
Episodic Muscle Disorders. 61
31794467 2019
14
Family with primary periodic paralysis and a mutation in MCM3AP, a gene implicated in mRNA transport. 61
31241196 2019
15
Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel. 61
31555136 2019
16
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs. 61
30420713 2018
17
Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis. 61
30838349 2018
18
Review of the Diagnosis and Treatment of Periodic Paralysis. 61
29125635 2018
19
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses. 61
29391559 2018
20
Periodic paralysis. 61
29478596 2018
21
Assessment of acute motor deficit in the pediatric emergency room. 61
28756061 2017
22
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses. 61
27643779 2016
23
Successful treatment of periodic paralysis with coenzyme Q10: two case reports. 61
28344441 2016
24
7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses. 61
27082780 2016
25
Dichlorphenamide: A Review in Primary Periodic Paralyses. 61
26941026 2016
26
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 61
27199537 2015
27
Episodic weakness and vacuolar myopathy in hypokalemic periodic paralysis. 61
26190219 2015
28
Efficacy and safety of flecainide for ventricular arrhythmias in patients with Andersen-Tawil syndrome with KCNJ2 mutations. 61
25496985 2015
29
Muscle channelopathies. 61
25037091 2014
30
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis. 61
25063199 2014
31
[Channels: a new way to revisit pathology]. 61
26263701 2014
32
Reference value of long-time exercise test in the diagnosis of primary periodic paralysis. 61
25266516 2014
33
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses. 61
24305449 2013
34
Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. 61
23802937 2013
35
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. 61
23644778 2013
36
Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis. 61
23473731 2013
37
The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients. 61
23097604 2012
38
Novel insights into the pathomechanisms of skeletal muscle channelopathies. 61
22083238 2012
39
[Muscle channelopathies. Myotonias and periodic paralyses]. 61
21484581 2011
40
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies. 61
21687503 2011
41
Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis. 61
20634695 2010
42
State of the art in hereditary muscle channelopathies. 61
21314017 2010
43
Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations. 61
20660662 2010
44
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 61
20080402 2010
45
Hereditary channelopathies in neurology. 61
20824453 2010
46
Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. 61
19571750 2009
47
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 61
19052238 2008
48
Diagnostics and therapy of muscle channelopathies--Guidelines of the Ulm Muscle Centre. 61
19472919 2008
49
[Periodic paralysis: new pathophysiological aspects]. 61
19445371 2008
50
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic. 61
18723887 2008

Variations for Periodic Paralyses

Expression for Periodic Paralyses

Search GEO for disease gene expression data for Periodic Paralyses.

Pathways for Periodic Paralyses

GO Terms for Periodic Paralyses

Cellular components related to Periodic Paralyses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel complex GO:0008076 8.96 KCNJ2 KCNE3
2 T-tubule GO:0030315 8.62 KCNJ2 CACNA1S

Biological processes related to Periodic Paralyses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.46 SCN4A KCNJ2 KCNE3 CACNA1S
2 potassium ion transport GO:0006813 9.43 KCNJ2 KCNE3
3 potassium ion transmembrane transport GO:0071805 9.4 KCNJ2 KCNE3
4 muscle contraction GO:0006936 9.37 SCN4A CACNA1S
5 cardiac conduction GO:0061337 9.32 KCNJ2 CACNA1S
6 regulation of heart rate by cardiac conduction GO:0086091 9.26 KCNJ2 KCNE3
7 membrane repolarization during action potential GO:0086011 8.96 KCNJ2 KCNE3
8 regulation of ion transmembrane transport GO:0034765 8.92 SCN4A KCNJ2 KCNE3 CACNA1S

Molecular functions related to Periodic Paralyses according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.96 SCN4A CACNA1S
2 voltage-gated ion channel activity GO:0005244 8.92 SCN4A KCNJ2 KCNE3 CACNA1S

Sources for Periodic Paralyses

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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