Benign hereditary chorea

Disease Overview

Benign hereditary chorea (BHC) is a rare movement disorder that begins
in infancy or childhood. Signs and symptoms in infants may include low
muscle tone, involuntary movements (chorea), lung infections, and
respiratory distress. Signs and symptoms in children may include delayed
motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia,
motor tics, and vocal tics.[7578] The chorea often improves with time. In
some cases, myoclonus persists or worsens. Children with BHC can have
normal intellect, but may have learning and behavior problems. Other
signs and symptoms include thyroid problems (e.g., hypothyroidism)
and lung disease (e.g., recurring infections).[7578] Treatment is tailored
to each child. Tetrabenazine and levodopa have been tried in individual
cases with some success.[7578] BHC is caused by mutations in the NKX2-1 gene
(also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.[7578]

Synonyms

• Chorea familial benign