Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome

• Published in: Tremor and other hyperkinetic movements (New York, N.Y.) Vol. 14; no. 1; p. 48
• Main Authors: Stehr, Antonia M, Koeglsperger, Thomas, Jacob, Maureen, Rhodio, Valerio, Winkelmann, Juliane, Hopfner, Franziska, Zech, Michael
• Format: Journal Article
• Language: English
• Published: England Ubiquity Press 2024
• Subjects: Abnormalities, Multiple; Age; Ataxia; Bone Diseases, Developmental - complications; Bone Diseases, Developmental - diagnosis; Bone Diseases, Developmental - genetics; Bone Diseases, Developmental - physiopathology; Child development; Convulsions & seizures; Dystonia; Ears & hearing; Epilepsy; Facies; Female; Frameshift Mutation; Genotype & phenotype; Humans; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Male; Microcephaly; Microcephaly - complications; Microcephaly - genetics; Microcephaly - physiopathology; Movement disorders; Posture; Repressor Proteins - genetics; Spasticity; Tooth Abnormalities - genetics; Tooth Abnormalities - physiopathology; Tremor (Muscular contraction); Tremor - genetics; Tremor - physiopathology; Young Adult; tremor; KBG syndrome; ANKRD11; combined tremor syndrome
• ISSN: 2160-8288; 2160-8288
• DOI: 10.5334/tohm.926

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. 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. 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.