Tests
1st tests to order
clinical diagnosis
Test
No further work up is required in typical cases.
Result
appropriate clinical suspicion for the disorder, coupled with a sensitive history and physical exam
Tests to consider
cervical x-rays
Test
Indicated where abnormal passive range of motion and/or severe neck pain is found on exam.
In these cases, potential findings would include atlantoaxial or other dislocations of cervical vertebrae.
Result
idiopathic condition: typically normal; chronic condition: may have asymmetrical degenerative changes
CT or MRI of the brain
Test
Indicated where focal neurologic abnormalities (other than the dystonia) are found on examination, or if clinical presentation is atypical.
In these cases, structural abnormalities in the basal ganglia may be present (e.g., infarct, tumor).
Result
idiopathic condition: typically normal
CT or MRI of the neck
Test
Indicated if there is reduced range of motion of the neck, or when there is a visible or palpable mass, severe focal tenderness, history of prominent pain or radiculopathy.
Soft tissue abnormalities (e.g., a mass) or bony abnormalities may be demonstrated in these situations.
Result
idiopathic condition: typically normal; chronic condition: may have muscle asymmetry, cervical nerve root compression
DYT-1 gene
Test
Indicated in a young patient (<30 years) with generalized dystonia.
Diagnosis of DYT-1 is made from molecular genetic testing of the TOR1A gene.
Result
3 base-pair deletion (c.904_906delGAG)
serum ceruloplasmin, urinary copper excretion
Test
Indicated in a young patient (<30 years) with findings suggestive for Wilson disease (i.e., Kayser-Fleischer rings, neuropsychiatric changes).
Result
normal serum ceruloplasmin and urinary copper levels
electromyography
Test
Electromyography is usually not necessary for diagnosis but may help target muscles for treatment with botulinum toxin.
Result
demonstration of dystonic contractions in cervical muscles
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