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Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, also known as SANDO syndrome, is a very rare genetic disorder which is characterized by ocular and nerve anomalies.
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | |
|---|---|
| Specialty | Medical genetics |
| Prevention | none |
| Frequency | very rare, only 29 cases have been described in medical literature |
| Deaths | - |
This disorder is characterized by the adult-onset triad consisting of the following symptoms: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. MRIS often reveals white matter abnormalities and bilateral thalamus lesions. Other symptoms include generalized myopathy, epilepsy, and deafness.[1][2]
It is caused by autosomal recessive mutations in the POLG gene.[3][4]
According to OMIM, approximately 29 cases have been described in medical literature.[5] Most of these cases came from Europe.[6][7][8][9][10][11][12]
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