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), facial grimacing, dysarthria (poorly articulated speech), and visual impairment. Several genes have been found that cause NBIA.
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.
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.
Research
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.
Organizations
NBIA Disorders Association
Dedicated to providing assistance to families affected by neurodegeneration with brain iron accumulation (formerly called Hallervorden-Spatz Syndrome) through support for research and educating the public.
2082 Monaco Court
El Cajon, CA 92019-4235
info@NBIAdisorders.org
http://www.NBIAdisorders.org
Tel: El Cajon
Fax: 619-588-4093
National Organization for Rare Disorders (NORD)
Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.
55 Kenosia Avenue
Danbury, CT 06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: Danbury
Fax: 203-798-2291
Easter Seals
Provides services to help children and adults with disabilities and/or special needs as well as support to their families. Supports the National AgrAbility Project, a program for farmers, ranchers, and farm workers with disabilities.
233 South Wacker Drive
Suite 2400
Chicago, IL 60606
info@easterseals.com
http://www.easterseals.com
Tel: Chicago
Fax: 312-726-1494
Content Provided By
NINDS Disorders is an index of neurological conditions provided by the National Institute of Neurological Disorders and Stroke. This valuable tool offers detailed descriptions, facts on treatment and prognosis, and patient organization contact information for over 500 identified neurological disorders.
