AI Article Synopsis
- McLeod syndrome is an X-linked neuroacanthocytosis disorder that presents symptoms similar to Huntington's disease, including movement disorders, cognitive issues, and psychiatric symptoms.
- A case series involving three patients highlighted severe feeding dystonia, tongue protrusion, and a rubber-man-like appearance in one of them.
- The findings suggest significant similarities in symptoms between McLeod syndrome and the autosomal recessive chorea-acanthocytosis, hinting at a broader phenotypic overlap.
Article Abstract
Background: 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.
Methods: This work comprised a case series of 3 patients with McLeod syndrome.
Results: 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.
Conclusion: These observations indicate that there is an extended phenotypic overlap between McLeod syndrome and chorea-acanthocytosis.
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| http://dx.doi.org/10.1002/mds.23843 | DOI Listing |
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