Neurodegeneration with brain iron accumulation (NBIA)

Neurodegeneration with brain iron accumulation (NBIA) are a group of rare nervous system disorders. They are passed down through families (inherited). NBIA involves movement problems, dementia, and other nervous system symptoms.

Causes

Symptoms of NBIA begin in childhood or adulthood.

There are 10 types of NBIA. Each type is caused by a different gene defect. The most common gene defect causes the disorder called PKAN (pantothenate kinase-associated neurodegeneration).

People with all forms of NBIA have a buildup of iron in the basal ganglia. This is an area deep inside the brain. It helps control movement.

Symptoms

NBIA mainly causes movement problems. Other symptoms may include:

• Dementia

  Dementia

  Dementia is a loss of brain function that occurs with certain diseases. It affects memory, thinking, language, judgment, and behavior.

   

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• Difficulty speaking
• Difficulty swallowing
• Muscle problems such as rigidity or involuntary muscle contractions ( dystonia )

  Dystonia

  Uncontrolled or slow movement is a problem with muscle tone, usually in the large muscle groups. The problem leads to slow, uncontrollable jerky mov...

   

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• Seizures

  Seizures

  A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...

   

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• Tremor

  Tremor

  A tremor is a type of shaking movement. A tremor is most often noticed in the hands and arms. It may affect any body part, including the head or vo...

   

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• Vision loss, such as from retinitis pigmentosa

  Retinitis pigmentosa

  Retinitis pigmentosa is an eye disease in which there is damage to the retina. The retina is the layer of tissue at the back of the inner eye. This...

   

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• Weakness
• Writhing movements
• Toe walking

Exams and Tests

The health care provider will perform a physical exam and ask about symptoms and medical history.

Genetic tests can look for the defective gene that causes the disease. However, these tests aren't widely available.

Tests such as an MRI scan can help rule out other movement disorders and diseases. The MRI usually shows iron deposits in the basal ganglia, and are called the "eye of the tiger" sign because of the way the deposits look in the scan. This sign suggests a diagnosis of PKAN.

Treatment

There is no specific treatment for NBIA. Medicines that bind iron may help slow the disease. Treatment is mainly focused on controlling the symptoms.

Outlook (Prognosis)

NBIA gets worse and damages the nerves over time. It leads to a lack of movement, and often death by early adulthood.

Possible Complications

Medicine used to treat symptoms can cause complications. Being unable to move from the disease can lead to:

• Blood clots

  Blood clots

  Blood clots are clumps that occur when blood hardens from a liquid to a solid. A blood clot that forms inside one of your veins or arteries is calle...

   

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• Respiratory infections
• Skin breakdown

When to Contact a Medical Professional

Call your provider if your child develops:

• Increased stiffness in the arms or legs
• Increasing problems at school
• Unusual movements

Prevention

Genetic counseling may be recommended for families affected by this illness. There is no known way to prevent it.