AI Article Synopsis
- * A case study of a 24-year-old patient revealed they had a significant tremor disorder, including various types of tremors and additional symptoms like muscle stiffness and coordination issues, alongside some developmental delays and epilepsy.
- * This case underscores the importance of recognizing movement disorders in KBG syndrome, suggesting that genetic testing for pathogenic variants should be considered when diagnosing tremor-related conditions.
Article Abstract
Background: KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in . A recent single-case study suggested that the clinical spectrum of KBG syndrome, classically defined by distinctive craniofacial traits and developmental delay, may include movement disorders.
Case Report: We report a 24-year-old patient harboring a pathogenic frameshift variant. The phenotype was dominated by a progressive tremor-dominant movement disorder, characterized by rest, intention and postural tremor of the hands, voice tremor, head and tongue tremor, increased muscle tone and signs of ataxia. Additionally, the patient had a history of mild developmental delay and epilepsy.
Discussion: Adding to the recently described individual, our present patient highlights the relevance of movement disorders as a clinically relevant manifestation of KBG syndrome. pathogenic variants should be considered in the differential diagnosis of combined tremor syndromes.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428658 | PMC |
| http://dx.doi.org/10.5334/tohm.926 | DOI Listing |
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