1.
Neuromuscul Disord
; 30(7): 590-592, 2020 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32600829
RESUMO
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia associated with mutations in POLG1. We report a 38-year-old woman with a history of progressive gait instability and bilateral ptosis. Neurological examination found ataxia, ophthalmoplegia, and dysarthria. MRI showed bilateral thalamic and cerebellar lesions. A POLG related disorder was suspected and after DNA sequencing a SANDO with a novel mutation in POLG was confirmed.