Feeding dystonia in McLeod syndrome

The X-linked McLeod syndrome belongs to the group of neuroacanthocytosis syndromes and has a Huntington-disease-like phenotype with a choreatic movement disorder, cognitive alterations, and psychiatric symptoms. Another neuroacanthocytosis syndrome, the autosomal recessive chorea-acanthocytosis, has a similar presentation, but distinct clinical features, believed to be characteristic, such as tongue protrusion dystonia, feeding dystonia, and rubber-man-like appearance.

This work comprised a case series of 3 patients with McLeod syndrome.

The 3 patients with McLeod syndrome developed severe feeding dystonia and tongue protrusion as well as rubber-man-like appearance in 1 patient during the course of the disease.

These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.