Cervical Dystonia

Diagnosis

• General physical and neurologic examinations
• Evaluation of the nature of the dystonia, including...
  • Apparent age at symptom onset
  • Bodily distribution
  • Disease progression
  • Whether dystonia occurs with specific actions
  • If it is characterized by "overflow"
  • If it is present at rest
  • Whether certain "sensory tricks" temporarily suppress dystonic movements

The examiner may also attempt to conduct passive movements of the affected bodily region, carefully feel (palpate) contracting muscles, and/or request that a patient adapt various positions or postures with the affected area. Such methods may be necessary for accurate diagnosis, appropriate assessment of the nature of dystonia, and localization of involved muscles (e.g., for those who may be appropriate candidates for therapy with botulinum toxin). Such evaluation may be documented by videotaped recordings. For those patients with suspected laryngeal dystonia, voice assessment is typically documented on voice recordings.

Additional evaluations may include assessment by a speech-language pathologist, when appropriate, physical or occupational therapists, or genetic counselors.

• A thorough patient history to help determine or exclude causative factors potentially associated with cervical dystonia and other forms of dystonia, such as exposure to certain toxins; peripheral, head, or spinal trauma; certain infections or inflammatory conditions of the brain; etc.


• A detailed family history


• Electrical recording techniques, such as electromyography (EMG); nerve conduction velocity tests; or other methods (e.g., reflex studies).


• Biopsies. In selected patients, diagnostic assessment may include surgical removal and microscopic evaluation (biopsy) of small samples of skin, muscle, and/or nerve tissue.


• Thorough neurologic evaluations to help confirm or exclude the presence of other neurologic signs that may suggest secondary dystonias, dystonia-plus syndromes, or heredodegenerative disorders. Such neurologic signs may include certain eye (ocular) abnormalities (e.g., optic atrophy, retinal abnormalities); parkinsonism; myoclonus; impaired coordination of voluntary movements (ataxia); spasticity; muscle weakness; dementia; seizures; and/or other findings.

For certain patients with adult-onset focal dystonia such as cervical dystonia, which is presumed to be primary (e.g., based upon thorough clinical examination, a complete patient and family history, nature of the dystonia, absence of certain signs upon examination, etc.), experts indicate that extensive laboratory or neuroimaging studies may not be necessary.