What is Neurodegeneration with Brain Iron Accumulation (NBIA):
This disorder is a rare, inherited, neurological movement disorder characterized by progressive degeneration of the nervous system. The common feature among all individuals with NBIA is iron accumulation in the brain, along with a progressive movement disorder.
Synonyms of Neurodegeneration with Brain Iron Accumulation (NBIA)
• HSS
• Hallervorden-Spatz Syndrome
• NBIA1
• NBIA1
• Pantothenate Kinase Associated Neurodegeneration (PKAN)
• Pigmentary Degeneration of Globus Pallidus, Substantia Nigra, Red Nucleus
Causes of Neurodegeneration with Brain Iron Accumulation (NBIA):
Individuals with this disorder often have abnormal accumulation of iron in certain areas of the brain. This is especially seen in regions of the basal ganglia (a part of the brain) called the globus pallidus and the substantia nigra. The basal ganglia is a collection of structures deep within the base of the brain that assist in regulating movements. The exact relationship between iron accumulation and the symptoms of NBIA is not fully understood.
Symptoms of Neurodegeneration with Brain Iron Accumulation (NBIA):
Symptoms, which vary greatly among patients and usually develop during childhood, may include slow writhing, distorting muscle contractions of the limbs, face, or trunk, muscle rigidity (uncontrolled tightness of the muscles), confusion, disorientation, seizures, stupor, and dementia. Some less common symptoms may include painful muscle spasms, mental retardation, facial grimacing, and visual impairment etc. etc.
Diagnosis of Neurodegeneration with Brain Iron Accumulation (NBIA):
The diagnosis of this disorder is made based upon a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. The diagnosis can be made by magnetic resonance imaging (MRI). This imaging technique shows the characteristic iron accumulation in certain areas of the brain. This is not seen in other forms of NBIA. MRI should be useful in distinguishing NBIA and non-NBIA individuals and may also help to determine which families should have DNA testing for NBIA.
Treatment of Neurodegeneration with Brain Iron Accumulation (NBIA):
There is no specific treatment for individuals with NBIA. Treatment is directed towards the specific symptoms that appear in each individual.The most consistent forms of relief from disabling dystonia is baclofen. This medication has been taken orally, although recently a baclofen pump has been used to administer regular doses automatically into the nervous system. Other treatment may require the coordinated efforts of a team of specialists.
