PED
MCID: PRX086
MIFTS: 25

Paroxysmal Exertion-Induced Dyskinesia (PED)

Categories: Rare diseases

Aliases & Classifications for Paroxysmal Exertion-Induced Dyskinesia

MalaCards integrated aliases for Paroxysmal Exertion-Induced Dyskinesia:

Name: Paroxysmal Exertion-Induced Dyskinesia 52
Dystonia 18 52 71
Paroxysmal Exercise-Induced Dystonia 52
Dyt-Slc2a1 52
Dyt18 52
Ped 52

Classifications:



Summaries for Paroxysmal Exertion-Induced Dyskinesia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98811 Definition Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. Epidemiology The prevalence is unknown but 20 sporadic cases and 9 families have been described to date. Clinical description The age of onset is usually in childhood, but may range from 1 to 30 years. PED is characterized by dyskinesias induced by prolonged exercise of 15-60 minutes of duration. The attacks last between 5 minutes and 2 hours and are typically restricted to the exercised limbs. The dystonic movements are usually bilateral and are aggravated by cold, psychological stress, fatigue and lack of sleep. The frequency of attacks varies between one per day to one per month. Brisk, deep tendon reflexes, developmental delay and intellectual disability (most frequently mild) may also be observed. In some familial forms, epilepsy or migraine can co-occur. PED can be associated with paroxysmal dystonic choreathetosis with episodic ataxia and spasticity , benign familial infantile seizures (BFIE), infantile convulsions and choreoathetosis (ICCA syndrome ) or rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp (see these terms). Etiology The pathophysiology of PED is still unknown but some familial cases were found to be associated with mutations in the SLC2A1 (solute carrier family 2 (facilitated glucose transporter), member 1) gene (1p34.2). SLC2A1 encodes the glucose transporter GLUT1. All mutations in this gene responsible for PED have been found to affect the ability of GLUT1 to transport glucose. It has thus been proposed that an energy deficiency upon exertion caused by a reduced glucose transport rate is a cause of this paroxysmal movement disorder in SLC2A1 related cases. Diagnostic methods The diagnosis of PED relies on clinical examination and laboratory investigations showing hypoglycorrhachia and hypoglycemia . Electroencephalography (EEG ) and brain imaging are normal. The diagnosis is confirmed by molecular genetic screening of SLC2A1 gene. Differential diagnosis The differential diagnosis includes paroxysmal kinesigenic dyskinesia (PKD), young adult-onset Parkinsonism and encephalopathy due to GLUT1 deficiency (see these terms). Antenatal diagnosis Prenatal diagnosis for pregnancies at increased risk of PED is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis (usually performed at 15-18 weeks' gestation) or chorionic villus sampling (usually performed at 10-12 weeks' gestation). The disease-causing mutation of an affected family member must be identified in the family before prenatal testing can be performed. Genetic counseling Sporadic and familial cases with autosomal dominant mode of inheritance have been reported for PED. Genetic counseling should be offered to patients and families. Management and treatment There is no specific cure or treatment but avoiding precipitating events such as prolonged physical exercise may largely improve the symptoms. Moreover, a ketogenic diet for patients may prevent attacks and may lead to improvement of developmental delay in affected children. Visit the Orphanet disease page for more resources.

MalaCards based summary : Paroxysmal Exertion-Induced Dyskinesia, also known as dystonia 18, is related to epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp and glut1 deficiency syndrome 2, and has symptoms including action tremor An important gene associated with Paroxysmal Exertion-Induced Dyskinesia is SLC2A1 (Solute Carrier Family 2 Member 1). Affiliated tissues include brain, testes and thalamus, and related phenotypes are choreoathetosis and paroxysmal dyskinesia

Related Diseases for Paroxysmal Exertion-Induced Dyskinesia

Diseases related to Paroxysmal Exertion-Induced Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 13.2
2 glut1 deficiency syndrome 2 12.2
3 periodontal ehlers-danlos syndrome 11.8
4 convulsions, familial infantile, with paroxysmal choreoathetosis 11.6
5 glut1 deficiency syndrome 1 11.6
6 dystonia 10.7
7 diarrhea 10.5
8 paroxysmal dystonia 10.3
9 bulimia nervosa 10.3
10 polycystic ovary syndrome 10.3
11 eating disorder 10.3
12 aneurysm 10.3
13 paroxysmal choreoathetosis 10.3
14 paroxysmal dyskinesia 10.3
15 chronic kidney disease 10.2
16 hepatitis c 10.2
17 kidney disease 10.2
18 pulmonary embolism 10.2
19 episodic kinesigenic dyskinesia 1 10.1
20 migraine with or without aura 1 10.1
21 quadriplegia 10.1
22 epilepsy 10.1
23 movement disease 10.1
24 hemolytic anemia 10.1
25 glucose transporter type 1 deficiency syndrome 10.1
26 3-methylglutaconic aciduria, type iii 10.1
27 pyruvate dehydrogenase e1-beta deficiency 10.1
28 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 10.1
29 restless legs syndrome 10.1
30 familial hemiplegic migraine 10.1
31 migraine without aura 10.1
32 benign epilepsy with centrotemporal spikes 10.1
33 lactic acidosis 10.1
34 plexopathy 10.1
35 insulinoma 10.1
36 hypoglycemia 10.1
37 familial paroxysmal nonkinesigenic dyskinesia 10.1
38 hereditary dystonia 10.1
39 disorder of energy metabolism 10.1
40 small cell cancer of the lung 10.1
41 lung cancer 10.1
42 macular degeneration, age-related, 1 10.1
43 bronchitis 10.1
44 diabetes mellitus 10.1
45 glioma 10.1
46 glial tumor 10.1
47 breast cancer 9.9
48 hepatocellular carcinoma 9.9
49 diabetes mellitus, noninsulin-dependent 9.9
50 esophageal cancer 9.9

Graphical network of the top 20 diseases related to Paroxysmal Exertion-Induced Dyskinesia:



Diseases related to Paroxysmal Exertion-Induced Dyskinesia

Symptoms & Phenotypes for Paroxysmal Exertion-Induced Dyskinesia

Human phenotypes related to Paroxysmal Exertion-Induced Dyskinesia:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 choreoathetosis 31 hallmark (90%) HP:0001266
2 paroxysmal dyskinesia 31 hallmark (90%) HP:0007166
3 paresthesia 31 frequent (33%) HP:0003401
4 hyperactive deep tendon reflexes 31 frequent (33%) HP:0006801
5 torsion dystonia 31 frequent (33%) HP:0001304
6 generalized non-motor (absence) seizure 31 frequent (33%) HP:0002121
7 irritability 31 occasional (7.5%) HP:0000737
8 ataxia 31 occasional (7.5%) HP:0001251
9 specific learning disability 31 occasional (7.5%) HP:0001328
10 aggressive behavior 31 occasional (7.5%) HP:0000718
11 intellectual disability, mild 31 very rare (1%) HP:0001256
12 lower limb spasticity 31 very rare (1%) HP:0002061

UMLS symptoms related to Paroxysmal Exertion-Induced Dyskinesia:


action tremor

Drugs & Therapeutics for Paroxysmal Exertion-Induced Dyskinesia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Peripheral Heterotopic Stimulation on Cortical Excitability in Dystonia Completed NCT00050024
2 Plasticity in Cervical Dystonia Completed NCT00323765
3 Neurophysiology of Task-Specificity of Focal Hand Dystonia Completed NCT00309010

Search NIH Clinical Center for Paroxysmal Exertion-Induced Dyskinesia

Genetic Tests for Paroxysmal Exertion-Induced Dyskinesia

Anatomical Context for Paroxysmal Exertion-Induced Dyskinesia

MalaCards organs/tissues related to Paroxysmal Exertion-Induced Dyskinesia:

40
Brain, Testes, Thalamus

Publications for Paroxysmal Exertion-Induced Dyskinesia

Articles related to Paroxysmal Exertion-Induced Dyskinesia:

(show all 34)
# Title Authors PMID Year
1
A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia. 61
30852237 2019
2
The glucose transporter type 1 (Glut1) syndromes. 61
30076047 2019
3
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. 61
29436738 2018
4
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
5
Classification of involuntary movements in dogs: Paroxysmal dyskinesias. 61
28190498 2017
6
Adverse events in deep brain stimulation: A retrospective long-term analysis of neurological, psychiatric and other occurrences. 61
28678830 2017
7
Exploratory structural assessment in craniocervical dystonia: Global and differential analyses. 61
28829782 2017
8
Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland. 61
27647704 2017
9
High rates of fatigue and sleep disturbances in dystonia. 61
26289935 2016
10
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. 61
27098784 2016
11
Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet? 61
26088884 2015
12
Treatment of paroxysmal dyskinesias in children. 61
25864940 2015
13
Paroxysmal movement disorders. 61
25432727 2015
14
Sporadic and familial glut1ds Italian patients: A wide clinical variability. 61
25564316 2015
15
Accuracy of stimulating electrode placement in paediatric pallidal deep brain stimulation for primary and secondary dystonia. 61
23430231 2013
16
Glucide metabolism disorders (excluding glycogen myopathies). 61
23622389 2013
17
[A child with paroxysmal exertion-induced dyskinesia]. 61
22712229 2012
18
'Ivory wave' toxicity in recreational drug users; integration of clinical and poisons information services to manage legal high poisoning. 61
22224933 2012
19
Glut1 deficiency: when to suspect and how to diagnose? 61
21962875 2012
20
Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. 61
22253609 2012
21
Milder phenotypes of glucose transporter type 1 deficiency syndrome. 61
21649651 2011
22
Paroxysmal choreodystonic disorders. 61
21496595 2011
23
The expanding phenotype of GLUT1-deficiency syndrome. 61
19304421 2009
24
Paroxysmal dyskinesias. 61
19364451 2009
25
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 61
18451999 2008
26
Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia. 61
15797178 2005
27
Paroxysmal Dyskinesias in Children. 61
12791193 2003
28
Glucose Transporter Type 1 Deficiency Syndrome 61
20301603 2002
29
[Clinico-pathomorphologic correlations in patients with symptomatic dystonias]. 61
12395440 2002
30
Analysis of stimuli triggering attacks of paroxysmal dystonia induced by exertion. 61
11160479 2001
31
Familial paroxysmal exercise-induced dyskinesia and benign epilepsy: a clinical and neurophysiological study of an uncommon disorder. 61
11076005 2000
32
Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis. 61
10435504 1999
33
Paroxysmal dyskinesias: clinical features and classification. 61
7574453 1995
34
Movement disorders following lesions of the thalamus or subthalamic region. 61
7990845 1994

Variations for Paroxysmal Exertion-Induced Dyskinesia

Expression for Paroxysmal Exertion-Induced Dyskinesia

Search GEO for disease gene expression data for Paroxysmal Exertion-Induced Dyskinesia.

Pathways for Paroxysmal Exertion-Induced Dyskinesia

GO Terms for Paroxysmal Exertion-Induced Dyskinesia

Sources for Paroxysmal Exertion-Induced Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....