What question did this study set out to answer?

This research aims to explore myoclonus-dystonia as a novel manifestation of Triple X Syndrome.

May 8, 2026Open Access

Expanding the Phenotype: Myoclonus–Dystonia as a Novel Manifestation of 47 XXX Syndrome

Key Points

This research aims to explore myoclonus-dystonia as a novel manifestation of Triple X Syndrome.
Review of clinical features associated with Triple X Syndrome including neurological phenotypes.
Analysis of genetic contributions to phenotype development such as gene overexpression.
Myoclonus-dystonia observed in a subset of individuals with Triple X Syndrome.
Increased awareness of neurological symptoms can enhance diagnosis and support for affected individuals.

Abstract

Triple X Syndrome (TXS), 47,XXX is a sex chromosome aneuploidy resulting from nondisjunction during meiosis, first described by Jacobs in 1959 and has an approximate incidence of 1 in 1000 live born females. (1)The phenotype in this disorder is hypothesised to occur from overexpression of genes that escape X-inactivation, and only about 10% of the cases are diagnosed as it is generally mild. (2)Reported features include developmental delay, intellectual disability,

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Authors

Lakshmi Priya Lalitha

Sree Chitra Thirunal Institute for Medical Sciences and Technology

Asish Vijayaraghavan

Sree Chitra Thirunal Institute for Medical Sciences and Technology

Kiren George Koshy

Sree Chitra Thirunal Institute for Medical Sciences and Technology

Journals

Journal of Movement Disorders

Actions

Institutions

Sree Chitra Thirunal Institute for Medical Sciences and Technology

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Expanding the Phenotype: Myoclonus–Dystonia as a Novel Manifestation of 47 XXX Syndrome

Key Points

Abstract

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