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Neurodegeneration with brain iron accumulation (NBIA)

Definition

Neurodegeneration with brain iron accumulation (formerly known as Hallervorden-Spatz disease) is a movement disorder that is passed down through families (inherited).

Alternative Names

Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration

Causes

Neurodegeneration with brain iron accumulation (NBIA) usually begins in childhood.

Most cases of NBIA disease are due to a defect in a gene that makes a protein called pantothenate kinase 2. Patients with this genetic defect have a buildup of iron in parts of the brain. Several genetic causes of NBIA have now been discovered.

Symptoms

Exams and Tests

The doctor or nurse will examine you and ask questions about your symptoms and medical history. The exam may show:

  • Abnormal postures and movements
  • Muscle rigidity
  • Tremors
  • Weakness

Genetic tests can look for the defective gene that causes the disease. However, this test is not yet widely available. It is only found at certain research laboratories.

Tests such as MRI can help rule out other movement disorders and diseases.

Treatment

There is no specific treatment for NBIA. Treatment is 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

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

When to Contact a Medical Professional

Call your health care provider if your child develops:

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

Prevention

Genetic counseling is appropriate in families affected by this illness. There is no known way to prevent it.

References

Lang AE. Other movement disorders. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 428.

Ropper AH, Samuels MA. Inherited metabolic diseases of the nervous system. In: Ropper AH, Samuels MA, eds. Adams & Victor's Principles of Neurology. 10th ed. New York, NY: McGraw-Hill; 2014:chap 37.


Review Date: 9/3/2014
Reviewed By: Joseph V. Campellone, MD, Department of Neurology, Cooper University Hospital, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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