What is Benign Hereditary Chorea BHC

Benign Hereditary Chorea (BHC) is a rare genetic disorder characterized by involuntary movements, specifically chorea, which refers to jerky, uncontrolled movements of the limbs, face, and trunk. It is an autosomal dominant condition, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

BHC typically manifests in childhood or adolescence and gradually worsens over time. The severity and progression of symptoms can vary widely among affected individuals. In addition to chorea, individuals with BHC may also experience muscle weakness, balance difficulties, and speech problems.

The underlying cause of BHC is a mutation in the TITF1 gene, which plays a crucial role in the development and function of certain brain regions. This mutation disrupts the normal functioning of these brain regions, leading to the characteristic movement abnormalities seen in BHC.

While there is currently no cure for BHC, treatment focuses on managing symptoms and improving quality of life. Medications such as dopamine-depleting agents and antipsychotics may be prescribed to help control the involuntary movements. Physical therapy and speech therapy can also be beneficial in managing associated motor and communication difficulties.