NINDS Neurodegeneration with Brain Iron Accumulation Information Page

Synonym(s): Hallervorden-Spatz Disease, Pantothenate Kinase-Associated Neurodegeneration

Table of Contents (click to jump to sections)

What is Neurodegeneration with Brain Iron Accumulation?
Is there any treatment?
What is the prognosis?
What research is being done?
Clinical Trials
Organizations

What is Neurodegeneration with Brain Iron Accumulation?

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.

Is there any treatment?

There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology.

What is the prognosis?

Most patients experience periods of rapid deterioration lasting 1–2 months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens. Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs secondary to dystonia and impaired swallowing, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood. For those with atypcial, late-onset NBIA, many are diagnosed as adults and live well into adulthood.

What research is being done?

The NINDS supports research on neurodegenerative movement disorders such as NBIA. The goals of this research are to increase understanding of these disorders, and to find ways to prevent, treat, and cure them.

NIH Patient Recruitment for Neurodegeneration with Brain Iron Accumulation Clinical Trials

Organizations

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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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National Institute of Neurological Disorders and Stroke
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Last updated June 14, 2012