Four Years of Dystonia: Meige Syndrome Misdiagnosed as FND

A 2024 case report in Cureus describes a 42-year-old woman with involuntary movements affecting her face, mouth and neck, together with difficulty speaking and swallowing. She was diagnosed with Functional Neurological Disorder (FND) and treated for it, but did not improve. The diagnosis was later changed to oromandibular dystonia and ultimately Meige syndrome.

The symptoms had been present for about four years. She had difficulty speaking because of involuntary facial movements, twitching of the eyelids, neck spasms and difficulty swallowing semisolid foods and liquids. Examination documented oromandibular, facial and cervical dystonic movements, dysarthria and dysphagia. Power and tone were normal in all four limbs, reflexes were normal, and sensory and cerebellar examinations were unremarkable. Routine blood investigations, electrolytes and thyroid testing did not reveal a cause.

She underwent video laryngoscopy because of the speech problems, but her vocal cords were anatomically and functionally normal. Gastroscopy for the swallowing difficulties was also normal, while brain MRI did not identify an explanatory structural abnormality. The report states that stroke, neoplasm, multiple sclerosis, lupus and Wilson's disease were among the conditions considered during the investigation.

FND was diagnosed

After these investigations, she was given a provisional diagnosis of FND and started on escitalopram 10 mg and clonazepam 0.25 mg at night. There was no improvement. Escitalopram was subsequently increased to 15 mg and olanzapine 2.5 mg was added, again without improvement. At a later follow-up, olanzapine was stopped and baclofen was introduced alongside clonazepam and escitalopram. The diagnosis was then reconsidered and changed from FND to oromandibular dystonia under evaluation. Her dysphagia and dysarthria persisted, and a neurological opinion was sought.

The diagnosis changed

Neurology diagnosed oromandibular-pharyngeal-lingual dystonia. The report ultimately identifies the condition as Meige syndrome, a cranial dystonia involving involuntary contractions of muscles around the eyes, face, jaw and mouth. Treatment was changed to Syndopa (levodopa/carbidopa), trihexyphenidyl and clonazepam. At follow-up two weeks later, she was able to utter several phrases and the intensity of the involuntary movements had decreased, although the movements had not completely resolved.

The authors call the FND diagnosis a misdiagnosis

The paper does not present Meige syndrome simply as an additional diagnosis alongside FND. The authors state:

“she was misdiagnosed as a case of functional neurological disorder, and then the diagnosis was revised to Meige syndrome with secondary depressive symptoms.”

FND was therefore replaced rather than retained. Depressive symptoms remained part of the clinical picture but were described as secondary.

What supported the FND diagnosis?

The report describes a number of investigations used to look for other causes but gives little detail about positive evidence for FND itself. The diagnosis appears in the chronology after investigations and consultations had failed to provide an explanation. No distractibility, entrainment or other positive functional motor sign is reported, nor is an internally inconsistent movement pattern described as the basis for the diagnosis. By contrast, the examination recorded oromandibular, facial and cervical dystonic movements, which were subsequently interpreted as part of the dystonia diagnosis.

Normal investigations

The patient had normal brain imaging, routine blood investigations, gastroscopy and video laryngoscopy. These results excluded or reduced the likelihood of several alternative explanations but did not identify the cause of the abnormal movements. Meige syndrome is diagnosed primarily from its clinical features rather than from a structural abnormality on routine MRI, so the normal investigations remained compatible with the diagnosis eventually made by neurology.

Four years of symptoms

The symptoms had been present for approximately four years by the time of the assessment described in the report. The patient had already been seen in medicine and otolaryngology and had undergone several investigations. After the FND diagnosis, several medications were tried without improvement. The diagnosis was eventually reconsidered, followed by neurological assessment and treatment for dystonia. Improvement was reported two weeks after the change in treatment.

The authors conclude that clinicians should be familiar with the presentation of Meige syndrome because of the possibility of confusing it with FND, particularly when patients present with combinations of facial movements, blepharospasm, oromandibular movements, dysarthria and dysphagia.

Source

Chadha Y, Toshniwal S, Patil R. Diagnostic Dilemma: Unraveling Meige Disorder Mistaken for Functional Neurological Disorder. Cureus. 2024;16(5):e61465. DOI: 10.7759/cureus.61465.