Neurodegeneration with brain iron accumulation (NBIA) is a rare neurological movement disorder characterized by progressive degeneration of the nervous system. It is an inherited disorder.
The symptoms of neurodegeneration with brain iron accumulation vary greatly among patients and the symptoms usually develop during childhood. The symptoms associated with the condition include slow writhing, distorting muscle contractions of the limbs, face, or trunk and choreoathetosis (involuntary, purposeless jerky muscle movements).
Among other characteristics of the condition are muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia.
Most patients with NBIA experience periods of rapid deterioration that last 1–2 months, with relatively stable periods in between. The progression of NBIA is related to the age at onset, which means that those with early symptoms have severe form of the disease. Those with early onset may have limited ability to walk, which sometimes force them to use wheelchair by the teenage.
Life expectancy with the condition is variable, although premature death does occur in NBIA. Premature death is more likely because of poor nutrition or aspiration pneumonia. With advancements of medical care and improved care, more affected individuals reach adulthood. For those with atypcial, late-onset NBIA, many are diagnosed as adults and live well into adulthood.
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