Approach Considerations
When a positive family history suggests a familial dystonia rather than idiopathic cervical dystonia, DNA tests for specific genetic dystonias are available that detect causative mutations. Plain cervical spine films are useful in distinguishing sequelae of bony buildup and scoliosis or spondylosis secondary to chronic dystonia from structural changes of the spine that may mimic cervical dystonia per se (ie, nondystonic torticollis).
Magnetic resonance imaging (MRI) of the cervical cord is useful in documenting cord impingement leading to either spinal stenosis or multiple radiculopathy, all of which can be secondary to bony changes from chronic dystonia. Cranial imaging (computed tomography [CT] scanning or MRI) of cervical dystonias is indicated when the physical examination includes abnormal long tract findings (eg, in pyramidal tracts), ophthalmoplegia, and/or dementia.
Contrast swallowing studies can be performed in consultation with a speech pathologist to evaluate and treat patients for swallowing disorders that accompany cervical dystonia. Indications for these studies are to plan botulinum toxin injections, which, if too extensive, may worsen the swallowing mechanism.
Electromyography is useful in distinguishing myopathic from neuropathic processes, as follows:
- Myopathic upper girdle muscles versus dystonic hypertrophied upper girdle muscles
- Multiple cervical root entrapment (polyradiculopathy) versus brachial plexus or single nerve involvement versus combinations of the above associated with bony cervical changes from dystonia
- Anterior horn disease shows fibrillations in involved root distributions (eg, amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease).
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