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?OrganizationsWhat is Neurodegeneration with Brain Iron Accumulation?
Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by
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.
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.
Select this link
to view a list of studies currently seeking patients.
Organizations
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by
or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
Return to top
Last updated February 14, 2007
