Tell us about your symptoms and treatment experience. Take our survey here.

Ataxia-hypogonadism-choroidal dystrophy syndrome

What is Ataxia-hypogonadism-choroidal dystrophy syndrome?

A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term).

Other condition names

  • Boucher-Neuhäuser syndrome

Inheritance type

Autosomal recessive

Age of Onset

  • Childhood
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.