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Condition report · Neurological

Hereditary Dystonia

Whole genome sequencing reads the main genes linked to inherited dystonia, including TOR1A, GCH1, THAP1, SGCE, ATP1A3 and KMT2B, for changes that cause involuntary muscle contractions.

Updated 23 October 2026

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About this condition

Dystonia is a movement disorder in which involuntary muscle contractions cause twisting movements or abnormal postures. Inherited forms are caused by changes in genes including TOR1A, GCH1, THAP1, SGCE, ATP1A3 and KMT2B.

Dystonia is a movement disorder in which muscles contract involuntarily. This causes twisting movements or abnormal postures. Each inherited form in this report is caused by changes in a single gene.

Several genes can cause inherited dystonia, and they differ in age of onset, where the dystonia starts and how it spreads. Most of the conditions in this report are autosomal dominant, which means a single changed copy of the gene is enough to cause them.

Not everyone with a change develops symptoms. For TOR1A, only about 30% of people who inherit the deletion develop dystonia. Knowing the gene helps doctors plan treatment, for example levodopa for GCH1 dopa-responsive dystonia, where the response can be striking, and deep brain stimulation for some other forms.

The 7 conditions we analyse

Inherited Dystonia

Dystonia is a group of movement disorders in which involuntary muscle contractions cause twisting movements or abnormal postures.

Signs and symptoms

The dystonia can stay in one body region or spread to several, and symptoms can begin in childhood or adulthood. Each genetic form is described below.

What a diagnosis changes

A movement disorder specialist should be involved early to discuss medicines and surgery, and the right approach depends on the gene involved.

Genes analysed

Also known as

familial dystonia; hereditary dystonic disorder; rare genetic dystonia; rare genetic dystonic disorder

Specific forms also covered

  • Early-Onset Generalised Dystonia, DYT1 (TOR1A)

    Autosomal dominant

    Caused by a deletion (a small piece of DNA that is missing) of three letters, c.907_909delGAG, in the TOR1A gene. More than 98% of people with this form of dystonia have this deletion.

    TOR1A

  • Dopa-Responsive Dystonia, DYT5

    Autosomal dominant

    Caused by a change in one copy of the GCH1 gene, which lowers the activity of the enzyme GTP cyclohydrolase 1 (an enzyme is a protein that speeds up a chemical reaction).

    GCH1

  • Torsion Dystonia 6

    Autosomal dominant

    Caused by a change in the THAP1 gene, which makes a transcription factor (a protein that switches other genes on or off).

    THAP1

  • Myoclonus-Dystonia, DYT11

    Autosomal dominant

    Caused by a change in the SGCE gene, which leads to brief muscle jerks (myoclonus) combined with twisting movements.

    SGCE

  • Rapid-Onset Dystonia-Parkinsonism, DYT12

    Autosomal dominant

    Caused by a change in the ATP1A3 gene, which also causes several related conditions such as alternating hemiplegia of childhood.

    ATP1A3

  • Childhood-Onset Dystonia 28

    Autosomal dominant

    Caused by a change in the KMT2B gene, which can cause dystonia or, in some families, a developmental disorder without dystonia.

    KMT2B

Includes 75 related subtypes ↓
  • adult-onset segmental dystonia
  • ataxia - oculomotor apraxia type 4
  • ataxia - telangiectasia variant
  • autosomal dominant dopa-responsive dystonia
  • benign paroxysmal torticollis of infancy
  • blepharospasm-oromandibular dystonia syndrome
  • brain dopamine-serotonin vesicular transport disease
  • childhood onset GLUT1 deficiency syndrome 2
  • classic dopamine transporter deficiency syndrome
  • combined cervical dystonia
  • combined dystonia
  • developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
  • developmental malformations-deafness-dystonia syndrome
  • dopa-responsive dystonia due to sepiapterin reductase deficiency
  • dystonia 12
  • dystonia 16
  • dystonia 21
  • dystonia 22, adult-onset
  • dystonia 22, juvenile-onset
  • dystonia 23
  • dystonia 24
  • dystonia 25
  • dystonia 27
  • dystonia 28, childhood-onset
  • dystonia 30
  • dystonia 31
  • dystonia 32
  • dystonia 33
  • dystonia 34, myoclonic
  • dystonia 35, childhood-onset
  • dystonia 37, early-onset, with striatal lesions
  • dystonia 5
  • dystonia 9
  • dystonia-aphonia syndrome
  • dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
  • dystonia, focal, task-specific
  • early-onset generalized dystonia
  • early-onset generalized limb-onset dystonia
  • ECHS1-related paroxysmal dyskinesia
  • episodic kinesigenic dyskinesia
  • episodic kinesigenic dyskinesia 1
  • episodic kinesigenic dyskinesia 2
  • episodic kinesigenic dyskinesia 3
  • familial idiopathic torsion dystonia
  • focal, segmental or multifocal dystonia
  • generalized dystonia
  • infantile convulsions and choreoathetosis
  • infantile epileptic-dyskinetic encephalopathy
  • infantile-onset generalized dyskinesia with orofacial involvement
  • intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
  • isolated dystonia
  • lymphatic malformation 5
  • myoclonic dystonia 11
  • myoclonic dystonia 15
  • myoclonic dystonia 26
  • myoclonus-dystonia syndrome
  • oromandibular dystonia
  • parkinsonism-dystonia 3, childhood-onset
  • parkinsonism-dystonia, infantile
  • paroxysmal dyskinesia
  • paroxysmal dystonia
  • paroxysmal nonkinesigenic dyskinesia
  • paroxysmal nonkinesigenic dyskinesia 1
  • paroxysmal nonkinesigenic dyskinesia 2
  • severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
  • striatonigral degeneration, childhood-onset
  • torsion dystonia 13
  • torsion dystonia 17
  • torsion dystonia 2
  • torsion dystonia 4
  • torsion dystonia 6
  • torsion dystonia 7
  • torsion dystonia with onset in infancy
  • Woodhouse-Sakati syndrome
  • X-linked dystonia-parkinsonism
MONDO:0044807Orphanet 391799MedGen 1842468Sources: [1][2][6]

Why whole genome sequencing

Dystonia can have several genetic causes, and the right advice for a family depends on which gene is involved.

Several genes in one test

Changes in several genes can cause dystonia, and each gene can behave differently. Whole genome sequencing reads the genes covered by this report in the same test rather than one gene at a time.

Symptoms are not certain

Some people with a change never develop symptoms. For TOR1A, about 30% of people who inherit the change develop dystonia, so a result needs to be discussed with a clinician or genetic counsellor.

Treatment depends on the gene

Some genetic forms respond to specific treatment. Low-dose levodopa can work well for GCH1, and deep brain stimulation has helped in some other forms, including SGCE myoclonus-dystonia.

Limitations

  • This report covers only the genes listed here. Dystonia caused by brain injury, medicines or other illness, and other inherited dystonia genes, are not included.
  • Most of these conditions show reduced penetrance, so a change may not lead to symptoms, and the report cannot predict whether or when symptoms will start.

References

  1. Lohmann K, Lange L, Klein C, Zech M, 2003. Monogenic Isolated Dystonia Overview
  2. Ozelius L, Lubarr N, 1999. DYT-TOR1A
  3. Furukawa Y, 2002. GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. GeneReviews
  4. Sermense YNA, Rosales RL, 2026. Expanding the phenotypic spectrum of THAP1 dystonia: a scoping review with an illustrative case of late-onset focal limb dystonia
  5. Staege S, Kutschenko A, Baumann H, Glaß H, Henkel L, Gschwendtberger T et al., 2021. Reduced Expression of GABA (A) Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons
  6. Raymond D, Saunders-Pullman R, Ozelius L, 2003. SGCE Myoclonus-Dystonia
  7. Brashear A, Sweadner KJ, Haq I, Napoli E, Ozelius L, 2008. ATP1A3-Related Disorder
  8. Abela L, Kurian MA, 2018. KMT2B-Related Disorders. GeneReviews
  9. Oterdoom DLM, van Egmond ME, Ascencao LC, van Dijk JMC, Saryyeva A, Beudel M et al., 2018. Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia

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