Cure My Disease

Don't miss your cure!

 Log in / Sign up

Chorea, benign familial

MONDO:0008979

Benign hereditary chorea (BHC) is a rare movement disorder that beginsin 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. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal 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). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. 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.

Also known as: chorea, benign familial, benign hereditary chorea, chorea familial benign

11 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Nervous system disorder (217) Movement disorder (89) Human disease (14) Choreatic disease (11) Disease by body system or component (0)
Trials to join now! 9 Completed 2
Sort by