Ataxia - hypogonadism - choroidal dystrophy
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1180
Definition
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).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Chorioretinal dystrophy |
| Absent speech |
| Ataxia |
| Hypogonadotrophic hypogonadism |
5%-29% of people have these symptoms.
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| Abnormal upper motor neuron morphology |
1%-4% of people have these symptoms.
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| Slurred speech |
| Spastic tetraparesis |
| Distal amyotrophy |
| Spasticity |
| Cerebellar atrophy |
| Gait ataxia |
| Intellectual disability, mild |
An unknown % of people have these symptoms.
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Minneapolis, MN, 55426, United States Phone: +1-763-553-0020 Fax : +1-763-553-0167 Email: naf@ataxia.org Url: https://ataxia.org/
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