Neurodegeneration with Brain Iron Accumulation (NBIA)
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.
There are several descriptive terms for the neuromuscular symptoms associated with all forms of NBIA. Dystonia describes involuntary muscle cramping that may force certain body parts into unusual, and sometimes painful, movements and positions. Choreoathetosis is a condition characterized by involuntary, rapid, jerky movements (chorea) occurring in association with relatively slow, sinuous, writhing motions (athetosis). In addition, there may be stiffness in the arms and legs because of continuous resistance to muscle relaxing (spasticity) and abnormal tightening of the muscles (muscular rigidity). Spasticiy and muscle rigidity usually begin in the legs and later develop in the arms. As affected individuals age, they may eventually lose control of voluntary movements. Muscle spasms combined with decreased bone mass can result in bone fractures (not caused by trauma or accident).
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.
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.
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.
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