Neurodegeneration with brain iron accumulation (formerly known as Hallervorden-Spatz disease) is a movement disorder that is passed down through families (inherited).
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
- Dementia
- Difficulty speaking
- Involuntary muscle contractions (dystonia)
- Movement problems
- Muscle rigidity
- Seizures
- Tremor
- Vision loss
- Weakness
- Writhing movements
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:
- Blood clots
- Respiratory infections
- Skin breakdown
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.
Alternative Names
Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration
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.
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Update Date 9/3/2014
Updated 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.
