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THE ATAXIA NEUROPATHY SPECTRUM
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).Most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures. Some affected individuals have weakness of the external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids (ptosis). Other signs and symptoms can include involuntary muscle twitches (myoclonus), liver disease, depression, migraine headaches, or blindness.
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?
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?
The Ataxia Neuropathy Spectrum is also known as ANS, MIRAS, SANDO and sensory ataxia neuropathy dysarthria and ophthalmoplegia.