Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include slow writhing, distorting muscle contractions of the limbs, face, or trunk, choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Other less common symptoms may include painful muscle spasms, dysphasia (difficulty speaking), mental retardation, facial grimacing, dysarthria (poorly articulated speech), and visual impairment. Several genes have been found that cause NBIA.
|NBIA Disorders Association
2082 Monaco Court
El Cajon, CA 92019-4235
|National Organization for Rare Disorders (NORD)
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Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
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National Institute of Neurological Disorders and Stroke
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Last updated June 14, 2012