Causes

Hallervorden-Spatz disease usually begins in childhood.

Most cases of Hallervorden-Spatz 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.

Symptoms

• Dementia
• Involuntary muscle contractions (dystonia)
• Movement problems
• Muscle rigidity
• Seizures
• Spasticity
• Tremor
• Vision changes
• Weakness
• Writhing movements

Exams and Tests

The doctor will perform a physical exam and ask questions about the patient's medical history. It is important to get a complete medical and family history, since the condition can run in families.

A neurological examination will 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

The goal of treatment is to control the symptoms. There is no specific treatment for Hallervorden-Spatz disease.

Outlook (Prognosis)

Hallervorden-Spatz 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

Pantothenate kinase-associated neurodegeneration

References

Lang A. Other movement disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 434.

Updated: 4/28/2012

Reviewed by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.