Meige syndrome, a cranio-cervical dystonia with a unique clinical phenotype

The eponym "Meige syndrome" and the term "cranio-cervical dystonia" have been used inter-changeably in the literature and recently the validity of this eponym has been debated.

To study the uniqueness of the term "Meige syndrome", from a large cohort of patients with cranio-cervical dystonia.

We describe the 15years follow-up of a large cohort of 50 patients with Meige syndrome, seen in a neurology movement disorder clinic and in a multidisciplinary neuro-ear-nose-throat (ENT) clinic. Following the original description of Henry Meige (1866-1940), we have included patients with blepharospasm (BSP) at onset and anatomical spread of dystonia to the jaw, mouth floor and neck, to describe a clinical phenotype of Meige syndrome among the cranio-cervical dystonias.

We report 2 groups: group 1, including 12 patients with cranial dystonia, with BSP spreading around the nose, the mouth, the masticatory muscles with opening or closing jaw dystonia; group 2, including 38 patients with cranio-cervical dystonia, with BSP spreading further to the mouth floor muscles and to the neck including cervical and laryngeal muscles. Among them, 20/38 patients had a clinical presentation dominated by ENT sphere symptoms. In 18/38 patients, the clinical picture is dominated by an anterocollis posture, progressing in the 7 most elderly patients to an extreme posture of chin on sternum.

The eponym Meige syndrome should be reserved for a particular group of dystonic patients, unique in its clinical midline spasm phenotype, and in its rostro-caudal progression, starting with a BSP and resulting in a clinical spectrum with a continuum from cranial to cranio-cervical dystonia. Stormy dystonic episodes, often precipitated by stress, are important to recognise and can be a therapeutic challenge.