TBCK syndrome: a rare multi-organ neurodegenerative disease

Abstract

TBCK syndrome is an autosomal recessive disorder primarily characterized by global developmental delay, hypotonia, abnormal magnetic resonance imaging (MRI), and distinctive craniofacial phenotypes. High variability is observed among affected individuals and their corresponding variants, making clinical diagnosis challenging. Here, we discuss recent breakthroughs in clinical considerations, TBCK function, and therapeutic development.

Keywords: bone abnormalities; developmental delay; hypotonia; neurodegeneration; neurological disorder; respiratory complications.