Nevrodegenerativ jernavleiringssykdom

Definisjon

A group of rare neurometabolic disease characterized by progressive extrapyramidal dysfunction (including generalized or oromandibular dystonia, dysarthria, Parkinsonism, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. It encompasses several disorders that can be distinguised by MRI and patients may present with variable clinical features including neuropathy, spastic paraplegia, encephalopathy, autism, dementia, diabetus mellitus, retinitis pigmentosa, optic atrophy, hypogonadism, alopecia and deafness. The age at onset and rate of progression are variable among individuals.