Hallervorden-Spatz disease

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 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 Hallervorden-Spatz disease. Treatment is focused on controlling the symptoms.

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

Update Date: 8/28/2012

Updated by: Luc Jasmin, MD, PhD, Department of Neurosurgery at Cedars-Sinai Medical Center, Los Angeles, and Department of Anatomy at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.