How to investigate a patient presenting with Meige syndrome and cervical dystonia?

Investigation of Meige Syndrome with Cervical Dystonia

Initial Clinical Assessment

Begin with a detailed neurological examination focusing on dystonic movements, assessment for upper motor neuron signs, and screening for secondary causes that require urgent intervention. 1

Essential History Components

• Age of symptom onset and progression pattern - Meige syndrome typically presents in middle-aged females with initial blepharospasm that evolves to include oromandibular and cervical involvement 1, 2
• Medication history - Document all current and past medications, particularly dopamine antagonists or other drugs that could cause secondary dystonia 3
• Family history - Construct a three-generation pedigree to identify potential genetic patterns 4
• Red flag symptoms requiring urgent evaluation: constitutional symptoms, immunosuppression history, inflammatory arthritis, significant trauma, or progressive neurological deficits 5

Physical Examination Priorities

• Cranial nerve assessment - Document severity and distribution of blepharospasm, oromandibular dystonia, and cervical involvement 1, 2
• Upper motor neuron signs - Test for hyperreflexia, clonus, Babinski sign, and spasticity, as these may indicate concurrent spinal pathology 1
• Dysmorphology examination - Look for features suggesting genetic syndromes 4
• Skin inspection with Wood's lamp - Screen for neurocutaneous disorders 4

Neuroimaging

Obtain cervical spine MRI without contrast as the primary imaging study to exclude structural causes and evaluate for concurrent spinal pathology. 5, 1

• MRI is essential because cervical dystonia can coexist with spinal compression, as demonstrated in cases showing acute compression fractures at C7 and T3 alongside Meige syndrome 1
• Brain MRI should be considered if there are atypical features, upper motor neuron signs, or concern for secondary dystonia from structural lesions 4

Laboratory and Genetic Testing

When Genetic Testing is Indicated

Genetic testing should be pursued if there is early onset, family history, developmental delay, or atypical features suggesting a secondary cause. 4

• Chromosomal microarray (CMA) as first-tier genetic test if developmental delay or congenital anomalies are present 4
• Exome sequencing (ES) or whole genome sequencing (WGS) as first- or second-tier testing for unexplained cases with additional neurological features 4
• Targeted gene panels may be considered if specific dystonia-related genetic syndromes are suspected based on phenotype 4

Metabolic Screening

• Consider metabolic testing only if there are suggestive clinical indicators such as developmental regression, episodic symptoms, or systemic involvement 4
• Serum calcium and magnesium levels to exclude hypocalcemia-related dystonia 4

Electrophysiological Studies

Electrophysiological testing is NOT routinely recommended for primary Meige syndrome diagnosis but may help identify concurrent neuropathies or radiculopathy. 4

• Somatosensory evoked potentials (SEPs) and motor-evoked potentials have limited utility in primary dystonia but may predict development of cervical spondylotic myelopathy if spinal pathology is suspected 4
• EMG/NCS should be reserved for cases with suspected peripheral nerve involvement or to differentiate from other movement disorders 4

Excluding Secondary Causes

Critical Exclusions

• Wilson disease screening - Serum ceruloplasmin and 24-hour urinary copper in patients under 40 years 4
• Congenital infections - CMV testing if polymicrogyria or microcephaly present, consider TORCH panel if prenatal history suggestive 4
• Drug-induced dystonia - Thorough medication review for dopamine antagonists, antiemetics, or other causative agents 3
• Autoimmune evaluation - Consider if there is history of inflammatory conditions or IgA deficiency 4

Functional Assessment

Document baseline dystonia severity using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) to establish objective measures for treatment response. 6, 7, 2

• BFMDRS includes both movement and disability subscales and is the validated standard for tracking dystonia severity 6, 7, 2
• Quality of life assessment should be systematically documented using validated patient-reported outcome measures 8

Referral Pathways

Immediate referral to a movement disorder specialist or neurologist with dystonia expertise is recommended for treatment planning. 3, 8

• Rehabilitation specialist referral for comprehensive neuromusculoskeletal management should occur concurrently 4, 3, 8, 5
• Clinical genetics consultation if genetic testing is being considered or if there are syndromic features 4

Common Pitfalls to Avoid

• Do not delay imaging - Cervical spine pathology can coexist with dystonia and requires identification 1
• Do not apply cervical collars - These are associated with significant harm in dystonia management 5
• Do not pursue extensive genetic testing in typical adult-onset isolated Meige syndrome without additional features, as this represents primary dystonia 4
• Do not overlook upper motor neuron signs - These indicate concurrent pathology requiring separate investigation 1