sensory ataxic neuropathy, dysarthria & ophthalmoparesis (SANDO)
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Genetics
- associated with defects in POLG or PEO1
- multiple mitochondrial DNA deletions in muscle
Clinical manifestations
- clinically heterogeneous systemic disorder with variable features resulting from mitochondrial dysfunction
- sensory ataxic neuropathy (may present with striking ataxia)
- dysarthria
- ophthalmoparesis