Ataxia neuropathy spectrum is group of autosomal recessive conditions (mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)), which were once thought to be distinct clinical entities but are now recognised as part of the polymerase gamma (POLG) related disorder spectrum. 90% of INpatients have ataxia and neuropathy, two-thirds develop seizures, half develop ophthalmoplegia.
HOW IS THE ATAXIA NEUROPATHY SPECTRUM DIAGNOSED?
The clinical diagnosis is backed up by investigative findings. Citrulline level in blood is decreased.Mitochondrial studies or NARP mtDNA evaluation plays a role in genetic diagnosis which can also be done prenatally
HOW IS THE ATAXIA NEUROPATHY SPECTRUM TREATED?
The treatment of The Ataxia Neuropathy Spectrum depends upon the severity of the disease.
DID YOU KNOW?
When this mutation is present in a higher percentage of a person's mitochondria is greater than 90 percent to 95 percent, it causes a more severe condition known as maternally inherited Leigh syndrome. Because these two conditions result from the same genetic changes and can occur in different members of a single family, researchers believe that they may represent a spectrum of overlapping features instead of two distinct syndromes.