The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate

Benign hereditary chorea is a rare disorder characterized by childhood-onset, non-progressive chorea, with or without associated respiratory and thyroid dysfunction.1 It is referred to as “brain-lung-thyroid” syndrome when all three systems are involved.2 It is caused by autosomal dominant mutations in the NKX2-1 gene (previously TITF-1), on chromosome 14.3 It is a genetically heterogeneous condition, with over 30 different causative mutations identified.