Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, also known as SANDO syndrome, is a very rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders ...

which is characterized by ocular and nerve anomalies.

Signs and symptoms

This disorder is characterized by the adult-onset triad consisting of the following symptoms: sensory ataxic neuropathy,

dysarthria Dysarthria is a speech sound disorder resulting from neurological injury of the motor component of the motor–speech system and is characterized by poor articulation of phonemes. It is a condition in which problems effectively occur with the ...

, and ophthalmoparesis. MRIS often reveals white matter abnormalities and bilateral

thalamus The thalamus (: thalami; from Greek language, Greek Wikt:θάλαμος, θάλαμος, "chamber") is a large mass of gray matter on the lateral wall of the third ventricle forming the wikt:dorsal, dorsal part of the diencephalon (a division of ...

lesions. Other symptoms include generalized

myopathy In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. ''Myopathy'' means muscle disease ( Greek : myo- ''muscle'' + patheia '' -pathy'' : ''suffering''). This meaning implies that the primary defec ...

epilepsy Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activit ...

, and

deafness Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is writte ...

Causes

It is caused by autosomal recessive mutations in the POLG gene.

Epidemiology

According to OMIM, approximately 29 cases have been described in medical literature. Most of these cases came from Europe.

References

Genetic diseases and disorders Rare genetic syndromes Syndromes affecting the eye Congenital disorders of eyes Syndromes affecting the nervous system {{Genetic-disorder-stub}