Tremor-Dominant Movement Disorder in <i>ANKRD11-</i> Associated KBG Syndrome.

ABSTRACT:

Background

KBG syndrome is a monogenic disorder caused by heterozygous pathogenic variants in ANKRD11. 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 de novo ANKRD11 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,

SUBMITTER: Stehr AM 

PROVIDER: S-EPMC11428658 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature