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Ataxia-hypogonadism-choroidal dystrophy syndrome

MONDO:0008980

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.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Endocrine system disorder (61) Hypogonadism (41) Hereditary endocrine growth disease (23) Hypogonadotropic hypogonadism (15) Human disease (14) Reproductive system disorder (13) Hereditary neurological disease (5)
Trials to join now! 4 Not yet finished but already full! 1 Completed 1
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