ataxia neuropathy spectrum
ataxia neuropathy spectrumA 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 ANS patients have ataxia and neuropathy; two-thirds develop seizures; half develop ophthalmoplegia.
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