Benign hereditary chorea

Also known as: BHC; brain-lung-thyroid syndrome

Early-onset nonprogressive chorea with thyroid and lung involvement.

Medical specialty: Neurology
Subspecialty: Neurology / Movement disorders; Pediatric neurology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in early childhood
Gene(s) involved: ADCY5, NKX2-1, PDE10A

Etiology & mechanism

NKX2-1 loss of function.

Gene(s) involved (3)

ADCY5NKX2-1PDE10A

Symptoms & signs (4)

childhood choreahypothyroidismhypotoniarespiratory problems

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.