RESUMEN

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.

Asunto(s)

Enfermedades Neurodegenerativas , Proteínas Serina-Treonina Quinasas , Humanos , Proteínas Serina-Treonina Quinasas/genética , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/etiología , Hipotonía Muscular/genética , Hipotonía Muscular/patología , Fenotipo