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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?
A Neurologist diagnoses The Ataxia Neuropathy Spectrum by examining the medical history of the patient and conducting laboratory tests.
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?
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.