SANDO syndrome (Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis)

Increased radiation sensitivity due to hereditary diseases/genetic diseases/mutations

Genetic diseases that are associated with increased radiation sensitivity are listed here. For each genetic disease listed, we have described the results of literature research and our own experience.

BRCA1/2-Mutation

Brooke-Spiegler syndrome (BSS)

Fanconi anaemia (FA)

Neurofibromatosis (NF1, NF2)

Phelan-McDermid syndrome (22q13 deletion syndrome, PMS)

SANDO syndrome

Tuberous sclerosis (TS); tuberous sclerosis complex (TSC)

General information about the disease

SANDO syndrome is a mitochondriopathy associated with multiple deletions of mitochondrial DNA. Phenotypically, patients often show ataxia, dysarthria and ophthalmoparesis. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions

Own studies for radiation sensitivity:

One patient with mitochondriopathy had already been tested for individual radiation sensitivity. This patient had SANDO syndrome and the studies showed that his individual radiation sensitivity was within the normal range.