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THE ATAXIA NEUROPATHY SPECTRUM
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?
It is not curable and symptomatic relief is targeted. Antioxidants play a role in improving the oxidative phosphorylation that is otherwise impaired
DID YOU KNOW?
The chances of living a full life with the Ataxia Neuropathy Spectrum is quite difficult and only possible if the disease is diagnosed at an early stage.