AOCCN 2025: Reflections of the Brain: Unravelling the Genetic Mystery of Mirror Movements

Presenter: Dr. Noopur Navandar

A case study reported the first case of congenital mirror movements linked to TUBB2B mutations, highlighting its role in abnormal axonal guidance.

An 11-year-old girl with motor and cognitive delays presented with involuntary hand movements. Congenital mirror movements, dystonia, and dysmorphic features were seen on examination. MRI revealed corpus callosum hypoplasia, dysplastic medulla, basal ganglia abnormalities and corticospinal tract asymmetry. Genetic tests identified heterozygous autosomal dominant TUBB2B mutation, also present in her mother and brother, both with similar disability. Other genes like DCC, TUBB3, TUBB, TUBA1A, and POMGNT1) were also involved. All three showed 80% symptom improvement with dopamine agonists. Early genetic diagnosis and targeted therapy may aid better outcomes.

AOCCN 2025, September 17th-20th 2025, New Delhi, India.