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What is torsion dystonia?
Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements, postures, or both.
Dystonic movements are typically patterned, twisting, and may be tremulous, are often initiated or worsened by voluntary action, and are associated with overflow muscle activation.
Because there is no biochemical, pathologic, or radiologic marker for dystonia, the diagnosis is based on the recognition of clinical features.
A characteristic feature of dystonia that helps to differentiate it from other hyperkinetic movement disorders is that dystonic movements are repetitive and patterned.
For reasons that are poorly understood, patients with dystonia have the ability to either suppress or decrease the involuntary movements by gently touching the affected area (alleviating maneuvers, sensory trick, or geste antagonistique).
Stress and fatigue make dystonia worse, whereas sleep and relaxation improve it
How is dystonia classified?
Dystonia may be classified according to age of onset, genetics, topographical distribution, or etiology. A new classification of dystonia was recently published based on an axis system (axis I and axis II).
Classification of Dystonia
| Axis I: Clinical Characteristics | |
| Age at Onset | |
| Infancy (0-2 years) | |
| Childhood (3-12 years) | |
| Adolescence (13-20 years) | |
| Early adulthood (21-40 years) | |
| Late adulthood (>40 years) | |
| Distribution | |
| Focal | Single body part |
| Segmental | One or more contiguous body parts |
| Multifocal | Two or more noncontiguous body parts |
| Generalized | Segmental crural dystonia and dystonia in at least one additional body part |
| Hemidystonia | One-half of the body |
| Temporal Pattern | |
| By disease course | |
| Static or progressive | |
| By variability | |
| Diurnal | |
| Task specific | |
| Paroxysmal | |
| Dystonia is Isolated or Combined | |
| Axis II: Etiology | |
| Pathology | |
| Evidence of degeneration | |
| Evidence of structural lesions, often static lesions | |
| Neither of above | |
| Inherited | |
| Autosomal dominant | |
| Autosomal recessive | |
| X-linked. | |
| Mitochondrial | |
| Acquired | |
| Perinatal-dystonic CP, delayed-onset dystonia | |
| Infection, drugs, toxin, vascular, neoplastic, brain injury, psychogenic | |
| Idiopathic: | |
| Sporadic or familial |
Axis I includes clinical characteristics such as age of onset, body distribution, temporal pattern, and whether dystonia is isolated or combined.
Axis II includes etiology. Usually there is temporal progression of focal to generalized dystonia in early-onset primary dystonia as compared to late-onset dystonia, which will usually remain localized or segmental.
The advancement in identifying several dystonia loci of genes, with various modes of inheritance and penetrance, has aided genetic counseling in families with dystonia.
Sources
Yap L, Kouyialis A, Varma TR: Stereotactic neurosurgery for disabling tremor in multiple sclerosis: thalamotomy or deep brain stimulation? Br J Neurosurg 21(4):349-354, 2007. van Rooijen DE, Geraedts EJ, Marinus J, Jankovic J, van Hilten JJ: Peripheral trauma and movement disorders: a systematic review of reported cases. J Neurol Neurosurg Psychiatry 82(8):892-898, 2011.
