Rare diseases · Sign or symptom
Dystonia
HP:0001332
What it means
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this184
Very common80–99%
26- 4H leukodystrophy
- Atypical juvenile parkinsonism
- Brain dopamine-serotonin vesicular transport disease
- Classic glucose transporter type 1 deficiency syndrome
- Encephalopathy due to prosaposin deficiency
- Gaucher disease type 2
- GM2 gangliosidosis, AB variant
- Hemidystonia-hemiatrophy syndrome
- Infantile dystonia-parkinsonism
- Machado-Joseph disease type 1
- Malonic aciduria
- Manganese poisoning
- MEGDEL syndrome
- MEPAN syndrome
- Myoclonus-dystonia syndrome
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neuroferritinopathy
- Pantothenate kinase-associated neurodegeneration
- Paroxysmal exertion-induced dyskinesia
- Paroxysmal kinesigenic dyskinesia
- Paroxysmal non-kinesigenic dyskinesia
- Primary dystonia, DYT21 type
- Primary dystonia, DYT6 type
- Progressive myoclonic epilepsy with dystonia
- Spinocerebellar ataxia type 3
- Woodhouse-Sakati syndrome
Common30–79%
54- Aceruloplasminemia
- Aicardi-Goutières syndrome
- Allan-Herndon-Dudley syndrome
- Alternating hemiplegia of childhood
- Aromatic L-amino acid decarboxylase deficiency
- Ataxia-oculomotor apraxia type 4
- Ataxia-telangiectasia-like disorder
- Atypical Rett syndrome
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- Autosomal recessive spastic ataxia with leukoencephalopathy
- Autosomal recessive spastic paraplegia type 78
- Beta-propeller protein-associated neurodegeneration
- Caribbean parkinsonism
- Cerebrotendinous xanthomatosis
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- CLN12 disease
- Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Familial dyskinesia and facial myokymia
- Familial infantile bilateral striatal necrosis
- Familial paroxysmal ataxia
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
- FOXG1 syndrome
- Glutaryl-CoA dehydrogenase deficiency
- Hemiparkinsonism-hemiatrophy syndrome
- Holoprosencephaly
- Huntington disease
- Huntington disease-like 3
- Hypoxanthine guanine phosphoribosyltransferase partial deficiency
- Idiopathic camptocormia
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- Juvenile amyotrophic lateral sclerosis
- Juvenile Huntington disease
- KCNQ2-related developmental and epileptic encephalopathy
- Lipoid proteinosis
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Mercury poisoning
- Metachromatic leukodystrophy, adult form
- Metachromatic leukodystrophy, juvenile form
- Metachromatic leukodystrophy, late infantile form
- Mitochondrial DNA-associated Leigh syndrome
- Mitochondrial membrane protein-associated neurodegeneration
- Mohr-Tranebjaerg syndrome
- Niemann-Pick disease type C
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- Parkinsonian-pyramidal syndrome
- Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, classic form
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Dystonic disease · Dystonic movements
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.