The Ataxia Neuropathy Spectrum is not actually a single disease but a group of diseases that is associated with MIRAS and the symptoms include muscle-, nerve-, and brain-related functions. These individuals would have trouble in proper balance and coordination. They would also suffer from severe nerve disturbances that eventually affects their regular brain functions to.
HOW IS THE ATAXIA NEUROPATHY SPECTRUM DIAGNOSED?
Diagnosis of the condition can be done prenatally in people who are at risk due to their family history. Blood tests reveal decrease in citrulline level that is a major indicator of this condition.
HOW IS THE ATAXIA NEUROPATHY SPECTRUM TREATED?
Learning disabilities and developmental delays are often seen in children with NARP, and older individuals with this condition may experience a loss of intellectual function (dementia). Other features of NARP include seizures, hearing loss, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). These signs and symptoms vary among affected individuals. NARP syndrome is not curable. Symptomatic relief is targeted. Antioxidants play a role in improving the oxidative phosphorylation that is otherwise impaired.
DID YOU KNOW?
Ataxia neuropathy spectrum is caused by mutations in the POLG gene or, rarely, the C10orf2 gene