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Neurodegeneration with brain iron accumulation (NBIA)

Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration; PKAN; 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
  • Difficulty speaking
  • Difficulty swallowing
  • Muscle problems such as rigidity or involuntary muscle contractions (dystonia)
  • Seizures
  • Tremor
  • Vision loss, such as from retinitis pigmentosa
  • 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
  • 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.

 

 

References

Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2016. Updated April 24, 2014. www.ncbi.nlm.nih.gov/books/NBK121988. Accessed July 29, 2016.

Jankovic J. Parkinson disease and other movement disorders. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 96.

NBIA Disorders Association. Overview of NBIA Disorders. NBIAdisorders.org. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Accessed July 29, 2016.

 

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                Review Date: 7/4/2016

                Reviewed By: Amit M. Shelat, DO, FACP, Attending Neurologist and Assistant Professor of Clinical Neurology, SUNY Stony Brook, School of Medicine, Stony Brook, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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