Abstract
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a genetic disorder chiefly affecting the nervous system. Symptoms typically arise in childhood or early adulthood and consist of proximal neurogenic muscle weakness, sensory neuropathy, ataxia, and retinitis pigmentosa. Affected individuals may also develop seizures, sensorineural hearing loss, ophthalmoplegia, short stature, and cardiac conduction defects. Learning disabilities and developmental delays are common, and cases may develop dementia later in the disease course. NARP arises from a heteroplasmic transversion m.8993T>G or the transition m.8993T>C within the functional domain of the MT-ATP6 gene coding for subunit 6 of the mitochondrial ATPase (complex V of the electron transport chain). There are no specific therapies for NARP, and treatment is supportive.
Published Version
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