Disease Browser
Parent Node: Dyskinesias (D020820) ..Starting node .. Dystonia (D004421) Child Nodes:
........Amyotrophic Dystonic Paraplegia (C566292) ........Dystonia 13, Torsion (C564354) ........Dystonia with Cerebellar Atrophy (C567131) ........Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657) ........Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp (C535499) ........Familial paroxysmal dystonia (C537180) ........GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126) ........LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724) ........Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654) ........Marsden syndrome (C536024) ........Mohr-Tranebjaerg syndrome (C535808) ........Torsion dystonia with onset in infancy (C536969) ........Torticollis (D014103) 5 Sister Nodes: ..Ataxia (D001259) 126 ..Athetosis (D001264) 3 ..Bobble-head doll syndrome (C536241) ..Catalepsy (D002375) ..Chorea (D002819) 17 ..Choreoathetosis/Spasticity, Episodic (C563401) ..Dyskinesia, Drug-Induced (D004409) ..Dyskinesia, Familial, with Facial Myokymia (C564676) ..Dystonia (D004421) 18 ..Episodic Kinesigenic Dyskinesia 2 (C567026) ..Hyperkinesis (D006948) ..Hypokinesia (D018476) 1 ..Infantile convulsions and paroxysmal choreoathetosis, familial (C535522) ..Mental Retardation, X-Linked, Syndromic 10 (C564560) ..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543) ..MIRROR MOVEMENTS 1 (OMIM:157600) ..Myoclonus (D009207) 10 ..Paroxysmal Exertion-Induced Dyskinesia And Hemolytic Anemia (C567412) ..Psychomotor Agitation (D011595) 1 ..Synkinesis (D046608) 2 ..Tics (D020323) ..Tremor (D014202) 6 Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 3555
Name: Dystonia
Definition: An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Alternative IDs: OMIM:612067
ParentIDs: MESH:D020820
TreeNumbers: C10.597.350.300 |C23.888.592.350.300
Synonyms: Diurnal Dystonia |DYSTONIA 16 |Dystonia, Diurnal |Dystonia, Limb |Dystonia, Muscle |Dystonia, Paroxysmal |DYT16 |Limb Dystonia |Muscle Dystonia |Paroxysmal Dystonia
Slim Mappings: Nervous system disease|Signs and symptoms
Reference:
MedGen: D004421
MeSH: D004421
OMIM: 612067 ; Genes: PRKRA ; Phenotypes Disease Causing ClinVar Variants Variation_Name GeneID GeneSymbol ClinicalSignificance dbSNP RCVaccession TestedInGTR PhenotypeIDs Chromosome Start Stop HGVS_c HGVS_p HGVS_g OtherIDs Disease_ClinVar Disease_hgmd NM_003690.4(PRKRA):c.665C>T (p.Pro222Leu) -1 - Pathogenic 121434410 RCV000006718 ; N MedGen:C2677567,OMIM:612067,ORPHA:210571 2 179300991 179300991 NM_003690.4:c.665C>T NP_003681.1:p.Pro222Leu NC_000002.11:g.179300991G>A OMIM Allelic Variant:603424.0001 C2677567 612067 Dystonia 16 NM_003690.4(PRKRA):c.267_268delTA (p.His89Glnfs) 8575 PRKRA Pathogenic 730880307 RCV000006719 ; N MedGen:C2677567,OMIM:612067,ORPHA:210571 2 179312281 179312282 NM_003690.4:c.267_268delTA NP_003681.1:p.His89Glnfs NC_000002.11:g.179312281_179312282delTA OMIM Allelic Variant:603424.0002 C2677567 612067 Dystonia 16