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 info@NBIAdisorders.org http://www.NBIAdisorders.org Tel: 619-588-2315 Fax: 619-588-4093 |
National Organization for Rare Disorders (NORD) 55 Kenosia Avenue Danbury, CT 06810 orphan@rarediseases.org http://www.rarediseases.org Tel: 203-744-0100 Voice Mail 800-999-NORD (6673) Fax: 203-798-2291 |
Easter Seals 233 South Wacker Drive Suite 2400 Chicago, IL 60606 info@easterseals.com http://www.easterseals.com Tel: 312-726-6200 800-221-6827 Fax: 312-726-1494 |
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Last updated June 14, 2012