Ataxia-hypogonadism-choroidal dystrophy syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome is 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.

Also known as: BNHS, Boucher-Neuhauser syndrome, Boucher-Neuhchäuser syndrome, Boucher-Neuhäuser syndrome, chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism, spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, ataxia - hypogonadism - choroidal dystrophy

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