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. Several genes have been found that cause NBIA.

Symptoms, which vary greatly and usually develop during childhood, can include:

• Dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk)
• Dysarthria (slurred or slow speech)
• Choreoathetosis (involuntary, purposeless jerky muscle movements)
• Muscle rigidity (uncontrolled tightness of the muscles)
• Spasticity (sudden, involuntary muscle spasms)
• Ataxia (inability to coordinate movements)
• Confusion
• Seizures
• Stupor
• Dementia
• Visual changes

Cognitive decline occurs in some forms of NBIA, however, the majority of individuals with NBIA do not have cognitive impairment.

NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset. For those with early onset, dystonia and spasticity can eventually limit the ability to walk.

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.

How can I or my loved one help improve care for people with neurodegeneration with brain iron accumulation?

Consider participating in a clinical trial so clinicians and scientists can learn more about NBIA and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with NBIA at Clinicaltrials.gov.

Where can I find more information about neurodegeneration with brain iron accumulation?

Information may be available from the following resources:

Easterseals
Phone: 800-221-6827

MedlinePlus

NBIA Disorders Association
Phone: 619-588-2315

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

Content source: https://www.ninds.nih.gov/health-information/disorders/neurodegeneration-brain-iron-accumulation Accessed June 23, 2023.

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