Distonija – tai judesio sutrikimų grupė, kai nevalingi raumenų susitraukimai sukelia sukamuosius judesius arba nenatūralias kūno padėtis.
Požymiai ir simptomai
Distonija gali likti vienoje kūno srityje arba išplisti į kelias sritis, o simptomai gali prasidėti vaikystėje arba suaugus. Toliau aprašoma kiekviena genetinė forma.
Ką keičia diagnozė
Anksti reikėtų kreiptis į judesio sutrikimų specialistą, kad būtų aptarti vaistai ir chirurginis gydymas; tinkamas požiūris priklauso nuo konkretaus geno.
Tiriami genai
Taip pat žinoma kaip
familial dystonia; hereditary dystonic disorder; rare genetic dystonia; rare genetic dystonic disorder
Taip pat apimamos konkrečios formos
Apima 75 susijusius poporūšius ↓Slėpti poporūšius ↑
- 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
