MCID: PRX086
MIFTS: 22

Paroxysmal Exertion-Induced Dyskinesia

Categories: Rare diseases

Aliases & Classifications for Paroxysmal Exertion-Induced Dyskinesia

MalaCards integrated aliases for Paroxysmal Exertion-Induced Dyskinesia:

Name: Paroxysmal Exertion-Induced Dyskinesia 53
Dystonia 18 53 73
Paroxysmal Exercise-Induced Dystonia 53
Dyt-Slc2a1 53
Dyt18 53
Ped 53

Classifications:



Summaries for Paroxysmal Exertion-Induced Dyskinesia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98811Disease definitionParoxysmal 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.EpidemiologyThe prevalence is unknown but 20 sporadic cases and 9 families have been described to date.Clinical descriptionThe 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).EtiologyThe 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 methodsThe 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 diagnosisThe differential diagnosis includes paroxysmal kinesigenic dyskinesia (PKD), young adult-onset Parkinsonism and encephalopathy due to GLUT1 deficiency (see these terms).Antenatal diagnosisPrenatal 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 counselingSporadic 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 treatmentThere 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 testes and brain, and related phenotypes are aggressive behavior and irritability

Related Diseases for Paroxysmal Exertion-Induced Dyskinesia

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

# Related Disease Score Top Affiliating Genes
1 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 12.5
2 glut1 deficiency syndrome 2 11.9
3 convulsions, familial infantile, with paroxysmal choreoathetosis 11.3
4 hemolytic anemia 10.0

Symptoms & Phenotypes for Paroxysmal Exertion-Induced Dyskinesia

Human phenotypes related to Paroxysmal Exertion-Induced Dyskinesia:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 aggressive behavior 32 occasional (7.5%) HP:0000718
2 irritability 32 occasional (7.5%) HP:0000737
3 ataxia 32 occasional (7.5%) HP:0001251
4 intellectual disability, mild 32 very rare (1%) HP:0001256
5 choreoathetosis 32 hallmark (90%) HP:0001266
6 torsion dystonia 32 frequent (33%) HP:0001304
7 specific learning disability 32 occasional (7.5%) HP:0001328
8 lower limb spasticity 32 very rare (1%) HP:0002061
9 absence seizures 32 frequent (33%) HP:0002121
10 paresthesia 32 frequent (33%) HP:0003401
11 hyperactive deep tendon reflexes 32 frequent (33%) HP:0006801
12 paroxysmal dyskinesia 32 hallmark (90%) HP:0007166

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 Plasticity in Cervical Dystonia Completed NCT00323765
2 Transcranial Magnetic Stimulation and Electrical Stimulation of Nerves to Study Focal Dystonia Completed NCT00050024
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:

41
Testes, Brain

Publications for Paroxysmal Exertion-Induced Dyskinesia

Articles related to Paroxysmal Exertion-Induced Dyskinesia:

# Title Authors Year
1
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. ( 18451999 )
2008

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

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70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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