Dystonia

Symptom Information:

Symptom ID: HPO:0001332
Synonyms:
Dystonic disease [HPO:0001332]
Dystonic movements [HPO:0001332]
Dystonia (disorder) [Orphanet:43260]
Dystonia [Orphanet:43260]
Dystonia Disorders [Orphanet:43260]
Dystonia [OMIM:Dystonia]
Dystonic movements [OMIM:Dystonic movements]
Dystonia/torticollis/writer's cramp/blepharospasms [Orphanet:43260]
Dystonia [MedDRA:10013983]
Dystonia tarda [MedDRA:10013983]
Dystonic reaction [MedDRA:10013983]
Fragments of torsion dystonia [MedDRA:10013983]
Idiopathic torsion dystonia [MedDRA:10013983]
Involuntary dystonic movements [MedDRA:10013983]
Other fragments of torsion dystonia [MedDRA:10013983]
Symptomatic torsion dystonia [MedDRA:10013983]
Dystonia aggravated [MedDRA:10013983]
Acute dystonia [MedDRA:10013983]
Dystonia (1 family) [OMIM:Dystonia (1 family)]
Dystonia (1 patient) [OMIM:Dystonia (1 patient)]
Dystonia (14% of patients) [OMIM:Dystonia (14% of patients)]
Dystonia (57%) [OMIM:Dystonia (57%)]
Dystonia (<20%) [OMIM:Dystonia (<20%)]
Dystonia (generalized, focal, or segmental) [OMIM:Dystonia (generalized, focal, or segmental)]
Dystonia (in 2 patients) [OMIM:Dystonia (in 2 patients)]
Dystonia (in severe cases) [OMIM:Dystonia (in severe cases)]
Dystonia (in some patients) [OMIM:Dystonia (in some patients)]
Dystonia (less common) [OMIM:Dystonia (less common)]
Dystonia (may spontaneously remit in childhood or adolescence) [OMIM:Dystonia (may spontaneously remit in childhood or adolescence)]
Dystonic movements (in 1 of 6 patients) [OMIM:Dystonic movements (in 1 of 6 patients)]
Quality:
Cross references:
Orphanet:43260 "Dystonia/torticollis/writer's cramp/blepharospasms" [Orphanet:43260]
OMIM: "Dystonia" [OMIM:Dystonia]
OMIM: "Dystonic movements" [OMIM:Dystonic movements]
OMIM: "Dystonia (1 family)" [OMIM:Dystonia (1 family)]
OMIM: "Dystonia (1 patient)" [OMIM:Dystonia (1 patient)]
OMIM: "Dystonia (14% of patients)" [OMIM:Dystonia (14% of patients)]
OMIM: "Dystonia (57%)" [OMIM:Dystonia (57%)]
OMIM: "Dystonia (<20%)" [OMIM:Dystonia (<20%)]
OMIM: "Dystonia (generalized, focal, or segmental)" [OMIM:Dystonia (generalized, focal, or segmental)]
OMIM: "Dystonia (in 2 patients)" [OMIM:Dystonia (in 2 patients)]
OMIM: "Dystonia (in severe cases)" [OMIM:Dystonia (in severe cases)]
OMIM: "Dystonia (in some patients)" [OMIM:Dystonia (in some patients)]
OMIM: "Dystonia (less common)" [OMIM:Dystonia (less common)]
OMIM: "Dystonia (may spontaneously remit in childhood or adolescence)" [OMIM:Dystonia (may spontaneously remit in childhood or adolescence)]
OMIM: "Dystonic movements (in 1 of 6 patients)" [OMIM:Dystonic movements (in 1 of 6 patients)]
UMLS:C0013421 "Dystonia" [HPO:0001332]
UMLS:C0013421 "Dystonia" [Orphanet:43260]
UMLS:C0393593 "Dystonia Disorders" [Orphanet:43260]
Is a (Direct Parents):
HPO         Abnormality of movement
MedDRA Dystonias
Orphanet Torticollis
Orphanet Abnormality of movement
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the nervous system(HPO:0000707)
          Abnormality of nervous system physiology(HPO:0012638)
             Abnormality of movement(HPO:0100022)
                Dystonia(HPO:0001332)
MedDRA:
Nervous system disorders(MedDRA:10029205)
    Abnormality of movement(HPO:0100022)
       Dystonias(MedDRA:10013985)
          Dystonia(HPO:0001332)
Database Frequency: 197 / 7739
Resource:

All diseases associated with this symptom:

16p11.2p12.2 microduplication syndrome (Orphanet:261204)
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY (OMIM:616034)
3-methylglutaconic aciduria type 1 (Orphanet:67046)
6-pyruvoyl-tetrahydropterin synthase deficiency (Orphanet:13)
AICARDI-GOUTIERES SYNDROME 1 (OMIM:225750)
AICARDI-GOUTIERES SYNDROME 2 (OMIM:610181)
AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
AICARDI-GOUTIERES SYNDROME 7 (OMIM:615846)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (OMIM:104290)
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (OMIM:614820)
ALZHEIMER DISEASE 3 (OMIM:607822)
AMYOTROPHIC DYSTONIC PARAPLEGIA (OMIM:105300)
AMYOTROPHIC LATERAL SCLEROSIS 15 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:300857)
ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
ATAXIA-TELANGIECTASIA (OMIM:208900)
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH (OMIM:208910)
Aceruloplasminemia (Orphanet:48818)
Adult-onset dystonia-parkinsonism (Orphanet:199351)
Alternating hemiplegia of childhood (Orphanet:2131)
Argininemia (Orphanet:90)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia with vitamin E deficiency (Orphanet:96)
Ataxia-telangiectasia (Orphanet:100)
Ataxia-telangiectasia-like disorder (Orphanet:251347)
Autosomal dominant spastic ataxia 1 (Orphanet:251282)
Autosomal recessive dopa-responsive dystonia (Orphanet:101150)
Autosomal recessive limb-girdle muscular dystrophy type 2S (Orphanet:369840)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 26 (Orphanet:101006)
Autosomal recessive spastic paraplegia type 35 (Orphanet:171629)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
Autosomal recessive spastic paraplegia type 53 (Orphanet:319199)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Behavioral variant of frontotemporal dementia (Orphanet:275864)
Beta-propeller protein-associated neurodegeneration (Orphanet:329284)
Beta-ureidopropionase deficiency (Orphanet:65287)
Bilateral striopallidodentate calcinosis (Orphanet:1980)
Biotin-responsive basal ganglia disease (Orphanet:65284)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Brain demyelination due to methionine adenosyltransferase deficiency (Orphanet:168598)
Brain-lung-thyroid syndrome (Orphanet:209905)
CADDS (Orphanet:369942)
CAMOS syndrome (Orphanet:83472)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
COMPLEX I, SUBUNIT ND6 (OMIM:516006)
Cerebrotendinous xanthomatosis (Orphanet:909)
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (Orphanet:293955)
Choreoacanthocytosis (Orphanet:2388)
Christianson syndrome (Orphanet:85278)
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (Orphanet:309854)
Coats plus syndrome (Orphanet:313838)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Congenital lactic acidosis, Saguenay-Lac-St. Jean type (Orphanet:70472)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
DYSTONIA 15, MYOCLONIC (OMIM:607488)
DYSTONIA WITH RINGBINDEN (OMIM:224550)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Dihydropteridine reductase deficiency (Orphanet:226)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
Duane retraction syndrome (Orphanet:233)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
Dystonia 16 (Orphanet:210571)
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY (OMIM:615924)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
EPISODIC KINESIGENIC DYSKINESIA 2 (OMIM:611031)
Early infantile epileptic encephalopathy (Orphanet:1934)
Early-onset spastic ataxia-neuropathy syndrome (Orphanet:313772)
Encephalopathy due to prosaposin deficiency (Orphanet:139406)
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (Orphanet:319678)
Familial dyskinesia and facial myokymia (Orphanet:324588)
Familial paroxysmal ataxia (Orphanet:97)
Filippi syndrome (Orphanet:3255)
Fucosidosis (Orphanet:349)
GM1 gangliosidosis (Orphanet:354)
GM1 gangliosidosis type 3 (Orphanet:79257)
GTP cyclohydrolase I deficiency (Orphanet:2102)
Galloway-Mowat syndrome (Orphanet:2065)
Gaucher disease type 3 (Orphanet:77261)
Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION (OMIM:607236)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Holoprosencephaly (Orphanet:2162)
Huntington disease (Orphanet:399)
Huntington disease-like 2 (Orphanet:98934)
Huntington disease-like 3 (Orphanet:157946)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 1 (OMIM:167320)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Orphanet:52430)
Infantile dystonia-parkinsonism (Orphanet:238455)
Infantile epileptic-dyskinetic encephalopathy (Orphanet:364063)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated succinate-CoQ reductase deficiency (Orphanet:3208)
Juvenile amyotrophic lateral sclerosis (Orphanet:300605)
Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency (Orphanet:352497)
Kufor-Rakeb syndrome (Orphanet:306674)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
LESCH-NYHAN SYNDROME (OMIM:300322)
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
LIPOYLTRANSFERASE 1 DEFICIENCY (OMIM:616299)
Leber hereditary optic neuropathy (Orphanet:104)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Lesch-Nyhan syndrome (Orphanet:510)
Leukoencephalopathy - ataxia - hypodontia - hypomyelination (Orphanet:137639)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Lipoid proteinosis (Orphanet:530)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 (OMIM:611092)
METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615159)
MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet:314637)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Monosomy 18p (Orphanet:1598)
Mucolipidosis type 4 (Orphanet:578)
Myoclonus-dystonia syndrome (Orphanet:36899)
Myotonia fluctuans (Orphanet:99734)
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
NIEMANN-PICK DISEASE, TYPE C1 (OMIM:257220)
NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Navajo neurohepatopathy (Orphanet:255229)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neurodegeneration with brain iron accumulation (Orphanet:385)
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (Orphanet:289560)
Neuroferritinopathy (Orphanet:157846)
Niemann-Pick disease type C (Orphanet:646)
Orofaciodigital syndrome type 1 (Orphanet:2750)
PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE (OMIM:600116)
PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
POLYENDOCRINE-POLYNEUROPATHY SYNDROME (OMIM:616113)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Parkinsonim due to ATP13A2 deficiency (Orphanet:314632)
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (Orphanet:53583)
Paroxysmal exertion-induced dyskinesia (Orphanet:98811)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelizaeus-Merzbacher-like due to GJC2 mutation (Orphanet:280282)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Potassium-aggravated myotonia (Orphanet:612)
Primary dystonia, DYT21 type (Orphanet:306734)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Propionic acidemia (Orphanet:35)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase E2 deficiency (Orphanet:79244)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Rapid-onset dystonia-parkinsonism (Orphanet:71517)
Rett syndrome (Orphanet:778)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
SPASTIC PARAPLEGIA, ATAXIA, AND MENTAL RETARDATION (OMIM:607565)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 (OMIM:606002)
STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Saethre-Chotzen syndrome (Orphanet:794)
Schwartz-Jampel syndrome (Orphanet:800)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Spasmus nutans (Orphanet:279882)
Spasticity - intellectual deficit - X-linked epilepsy (Orphanet:3175)
Spinocerebellar ataxia type 17 (Orphanet:98759)
Spinocerebellar ataxia type 28 (Orphanet:101109)
Spinocerebellar ataxia type 3 (Orphanet:98757)
Spinocerebellar ataxia with axonal neuropathy type 2 (Orphanet:64753)
Sporadic Leigh syndrome (Orphanet:255199)
Thiamine-responsive encephalopathy (Orphanet:199348)
Treacher-Collins syndrome (Orphanet:861)
Triose phosphate-isomerase deficiency (Orphanet:868)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
Wilson disease (Orphanet:905)
Woodhouse-Sakati syndrome (Orphanet:3464)
X-linked creatine transporter deficiency (Orphanet:52503)
Young adult-onset Parkinsonism (Orphanet:2828)
[DEL] LEBER OPTIC ATROPHY (OMIM:535000)