Dystonia
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Web Resources for Dystonia
Relevant Clinical Literature
RCT with Dystonia from Pubmed
UK Guidance
Other Wikis
Medpedia on Dystonia (Less technical, good quality control)
Wikipedia on Dystonia (Less technical, ? quality control)
Movement disorders with
- Sustained muscle contractions
- Repetitive twisting movements
- Abnormal postures or failure to maintain posture
There are many possible causes; genetic, environmental such as medications and of course diseases. It is easy to misdiagnose due to ignorance or by assessment out of context. The complexity of presentation does not help and several different classification systems exist that are challenging to navigate as a result. It is possible that many dystonias have a genetic basis.[1]
Common adult dystonias include:
Various drugs may cause axial dystonia, where the sufferer loses core rigidity and tends to bend sideways.
Treatment
- Take full history and do examination looking for rare causes like Wilson's disease
- Review medication - some unexpected medications can occasionally cause dystonias
- Rule out dopa-responsive dyskinesia by giving levodopa
- High dose trihexyphenidyl or benztropine
- Tetrabenazine
- Intrathecal baclofen
- Botulinium toxin
- Surgery
- The latest NICE guidance suggests deep brain stimulation may have a role. [2]
| System | Type | Comment |
|---|---|---|
| Aetiological | Primary | no other neurology apart from tremor or occassionally myoclonus |
| Primary generalised torsion dystonia | a progressive dystonia usually beginning in childhood and genetically linked | |
| Primary focal dystonia | nearly always adult onset affecting upper limbs, neck or face. Usually progresses for up to 2 years then stabilises. Some forms genetically linked. | |
| Secondary dystonia | From many neurodegenerative diseases, drugs and trauma | |
| Topographic | Focal | single region affected |
| Segmental | two or more adjacent regions | |
| Multifocal | two or more nonadjacent regions | |
| Generalised | leg/legs/trunk and one other region | |
| Hemidystonia | ipsilateral arm & leg | |
| Age of Onset | Childhood & Young Adult | often progresses from a focal limb dystonia to a generalised form |
| Adult | usually craniocervical, focal and not progressive | |
| Genetic | Dystonia, Familial, With Visual Failure and Striatal Lucencies(Leber's hereditory optic neuropathy plus dystonia, Marsdon syndrome, LHON-dystonia) | NADH-ubiquinone oxidoreductase subunit NADH dehydrogenase subunit 6 of mitochrondrial complex 1 gene in mitochondrial DNA resulting in maternal inheritance or either dystonia or optic atrophy or both. |
| Mohr-Tranebjaeg syndrome (DFN-1/MTS, DDP, Deafness-dystonia syndrome 1, Mohr-Tranebjaeg syndrome, XL dystonia optic atrophy) | Mutations of Dystonia-deafness peptide with X linked inheritence influensed by mitochondrial genes with childhood onset of dystonia and sensineural deafness, spasticity,mental retardation and cortical blidness. Female carriers can get adult onset focal dystonia. | |
| Torsion Dystonia 1 (Dystonia 1, DYT1, Primary torsion dystonia, idiopathic tosion dystonia, Oppenheim dystonia, dystonia musculorium deformans 1, TOR1A) | Torsion A gene GAG deletion on 9q34 resulting in autosomal dominant early onset dystonia, usually initially focal of say one foot and evolves to generalised dystonia | |
| Dystonia Musculorum Deformans (Dystonia 2, DYT2, Autosomal recessive primary dystonia) | childhood with segmental or generalised dystonia | |
| Dystonia 3 (DYT3, X-linked dystonia-parkinsonism, lubag) | TAF1 gene encoding a transcription factor on Xq13.1 resulting in males having young adult focal onset followed by segmental or generalised dystonia. Parkinsonism evolves in 50% | |
| Dystonia Musculorum Deformans 4(Dystonia 4, DYT4, Torsion dystonia 4,non-DYT1 primary torsion dystonia) | autosomal dominant with young adult onset typically larngeal whispering dystonia, sometimes cervical, often generalised and can have psychiatric co-morbidity | |
| GCH1 (Dopa resposive dystonia, Segawa syndrome-autosominal dominant, hereditary progressive dystonia with marked diurnal valiation. Dystonia 5, DYT5) | Guanosine triphosphate cyclohydrolase which is a cofactor in dopamine synthesis on 14q22.1-.2 causing autosominal dominant form or rarely Segawa syndrome-autosominal recessive tyrosine hydrolase on 11p15.5 causing autosominal recessive form with childhood onset dystonia, parkinsonism. diurnal variation and sometimes similarities to cerebral palsy but dramatic response to levodopa | |
| Dystonia 6 (DYT6 Adolescent-onset primary torsion dystonia of mixed type) | gene at 8p21-8p22 causing an autosomal dominant young adult focal or segmental dystonia that may become generalised | |
| Dystonia 7 (DYT7 Adult-onset focal primary torsion dystonia) | gene at 8p11.3 causing an autosomal dominant adult onset focal dystonia (cervical or writers cramp or larangeal) and hand tremors | |
| Paroxysmal Nonkinesigenic Dyskinesia (Dystonia 8, DYT8 ) | mutation in the myofibrillogenesis regulator-1 gene at 2q33-2q36 causing an autosomal dominant childhood or young adult onset episodic dystonia or chorea triggered by stress , caffeine, alcohol or nicotine | |
| Choreoathetosis/Spasicity, Episodic(Dystonia 9. DYT9, CSE, Paroxysmal choreoathetosis with episodic ataxia and spasticity, choreoathetosis spasicity and episodic ataxia) | gene at 1p13.3-1p21 causing an autosomal dominant childhood onset chronic spastic paraplegia plus episodic dytonia/choreoathetosis/parathesias/diplopia triggerred by stress, exercise and alcohol | |
| Paroxysmal kinesigenic choreoathetosis(Dystonia 10, DYT10, PKC, paroxysmal kinesogenic dyskinesias, periodic dystonia) | gene at 16p11.2-12.1 causing an autosomal dominant childhood onset dystonia with sudden movements triggerring dystonia or choreoathetosis | |
| [Myoclonic Dystonia (Dystonia 11, DYT11, Myoclonus-dystonia, alcohol respnsive dystonia) | ηSarcogycan gene at 7q21-7q31 causing an autosomal dominant childhood or adult onset dystonia with myoclonus and improvement with alcohol | |
| Dystonia 12 (DYT12, PRapid onset dystonia-parkinsonism) | Na+/K+-ATPase α3 subunit (ATP1A3) mutation at 19q13 causing an autosomal dominant variable age of onset generalised dystonia with either acute or subacute onset and parkinsonism | |
| Dystonia 13(DYT13, Focal dystonia with craniocervical features) | gene at 1p36.13-32 causing an autosomal dominant variable age of onset mild focal or segmental dystonia of upper body very rarely generalised. | |
| Dystonia 15 (DYT15, Myoclonic Dystonia 15) | gene mutations at 18p11 causing an alcohol-responsive myoclonic dystonia. | |
| Epilepsy, Rolandic with Paroxysmal Exercise-induced Dystonia, and Writer's Cramp(EPRPDC, RE-PED-WC) | gene at 16p12-p11.2 causing an autosomal recessive infant onset seizures and and paroxysmal dystonia of the neck, trunk, or limbs associated with exercise associated with horizontal nystagmus. | |
| Sepiapterin reductase (Dopa-responsive dystonia due to sepiapterin reductase deficiency) | sepiapterin reductase gene on 2p14-p12 causing at least 5 different dystonia's, some pure, some with psychomotor retardation, spasticity, microcephaly, and growth retardation |
References
- ↑ Simon DK, Friedman J, Breakefield XO, Jankovic J, Brin MF, Provias J, et al. A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia. Neurogenetics. 2003;4:199-205. (Direct link – subscription may be required.)
- ↑ Deep brain stimulation for tremor and dystonia (excluding Parkinson's disease)
- ↑ Tarsy D, Simon DK. Dystonia. The New England journal of medicine. 2006;355:818-29. (Direct link – subscription may be required.)
