Benign hereditary chorea (BHC) is a movement disorder that begins in infancy or childhood. Symptoms of BHC in infants include low muscle tone (hypotonia), uncontrolled body movements (chorea), uncontrolled muscle contractions (dystonia), and lung and thyroid problems. Symptoms in children include delayed motor and walking milestones, jerky muscle movements (myoclonus), motor tics, and vocal tics. Children with this condition may not have any intellectual disability, but they may have learning and behavior problems. The symptoms normally improve over time.
BHC is caused by a mutation (change) in the NKX2-1 (also known as TITF1) gene. We inherit our genes in pairs, one from each parent typically. The NKX2-1 gene is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition.
BHC can be diagnosed through physical exam and through looking for changes in the NKX2-1 gene using genetic testing. This condition may be treated with Parkinson type drugs that aims to improve the motor symptoms of the condition. Lung-related symptoms are treated similarly to asthma and other lung diseases, and thyroid-related symptoms can be treated with thyroid replacement therapy.
If you or a family member has been diagnosed with benign hereditary chorea, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Aug 29, 2018