Dystonia
Symptom Information:
Symptom ID: | HPO:0001332 | ||||||||||||||||||||||||||||||
Synonyms: |
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Quality: | |||||||||||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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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) |
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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) |