Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.
Maximilian Johannes Löw, Felix Bernsdorff, Christiane Weinrich et al.
✦ AI-curated · Sources linked
Case in brief
A 61-year-old man with a long-standing misdiagnosis of cerebral palsy presented with neurodevelopmental disorder, mild ataxia, and generalized dystonia. Whole-exome sequencing revealed a novel pathogenic variant in TBL1XR1, suggesting a link between this genetic variant and the patient's movement disorder. The case underscores the importance of genetic testing in adults with persistent neurodevelopmental issues.
Diagnostic / clinical pearl
This case illustrates that generalized dystonia may be an additional manifestation of TBL1XR1 variants, expanding the known clinical spectrum associated with this gene.
Why it matters
The findings emphasize the need for retrospective genetic evaluation in adults with longstanding neurodevelopmental diagnoses, potentially leading to more accurate diagnoses and management.