Expanding the Phenotype: Myoclonus–Dystonia as a Novel Manifestation of 47,XXX Syndrome
Lakshmi Priya Lalitha, Asish Vijayaraghavan, Kiren George Koshy, Sayooja Sachithanandan, Divya Kalikavil Puthenveedu, Syam Krishnan · 2026
Read Expanding the Phenotype: Myoclonus–Dystonia as a Novel Manifestation of 47,XXX Syndrome by Lakshmi Priya Lalitha, Asish Vijayaraghavan, Kiren George Koshy, Sayooja Sachithanandan, Divya Kalikavil Puthenveedu, Syam Krishnan (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13461286.txt.
Description
Lakshmi Priya Lalitha and five colleagues report a woman with triple X syndrome who developed a movement disorder not seen in this condition before. Triple X syndrome comes from an extra X chromosome in females. Most cases are mild and many are never found. Known signs include learning problems, seizures, and tremor.
The patient was a twenty-seven-year-old woman whose hands had jerked and twisted since she was thirteen. The movements slowly made writing and feeding herself hard. Tests showed the jerks were myoclonus with dystonia, a paired movement disorder. A full gene read found no single-gene cause. The authors say this first known case widens the list of signs doctors should watch for in triple X syndrome.
Catalog record
| CREATOR | Lakshmi Priya Lalitha, Asish Vijayaraghavan, Kiren George Koshy, Sayooja Sachithanandan, Divya Kalikavil Puthenveedu, Syam Krishnan |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 8 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |