P.55Sensory ataxic neuropathy with dysarthria and ophthalmoparesis: seven case reports

Abstract

Sando syndrome is a distinctive mitochondrial disorder characterized by the triad of sensory ataxic neuropathy, dysarthria and ophthalmoparesis. It is a rare phenotype that has only been reported in a small number of cases. Herein we presented seven cases of adult onset sensory ataxic neuropathy with dysarthria and ophthalmoplegia. All patients had noticed ptosis as the first symptom, the onset was between the ages of 22-38. The disease showed a slowly progressive course in all. Two male and 5 female patients diagnosed at the ages of 40-53 with full phenotype. Neurological examination on admission revealed mild cerebellar ataxia, sensory neuropathy, facial and proximal weakness, dysarthria, dysphagia and external ophthalmoplegia. A woman had also parkinsonism, another woman suffered from gastrointestinal dysmotility as well. None of patients showed other symptoms such as pyramidal signs, seizures, hearing loss, cognitive deficits or psychiatric disorders. Electrophysiological studies demonstrated sensory neuropathy, skeletal muscle biopsy revealed mitochondrial myopathy findings in all patients. Genetic testing revealed pathogenic mitochondrial DNA polymerase gamma (POLG) mutations in 2 patients. Genetic analysis is not finished in the others yet.