Düstoonia on liikumishäirete rühm, mille korral tahtmatud lihaskontraktsioonid põhjustavad keerutavaid liigutusi või ebanormaalseid kehahoiakuid.
Tunnused ja sümptomid
Düstoonia võib jääda ühte kehapiirkonda või levida mitmesse ning sümptomid võivad alata nii lapsepõlves kui ka täiskasvanueas. Iga geneetilist vormi kirjeldatakse allpool.
Mida diagnoos muudab
Liikumishäirete spetsialist tuleks kaasata varakult, et arutada ravimeid ja kirurgilist ravi. Sobiv lähenemine sõltub geenist, mis on seotud.
Analüüsitud geenid
Tuntud ka nimetustena
familial dystonia; hereditary dystonic disorder; rare genetic dystonia; rare genetic dystonic disorder
Hõlmatud on ka konkreetsed vormid
Hõlmab 75 seotud alatüüpi ↓Peida alatüübid ↑
- 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
