Hallervorden-Spatz disease

Definition

Hallervorden-Spatz disease is a movement disorder that is passed down through families (inherited).

Causes, incidence, and risk factors

Hallervorden-Spatz usually begins in childhood.

Most cases of Hallervorden-Spatz 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

Signs and tests

A nervous system (neurological) examination will show:

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

If other family members are affected, this may help confirm the diagnosis.

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. Although there is no specific treatment for Hallervorden-Spatz disease, taking certain vitamins (including pantothenate, Coenzyme Q10, and other antioxidants) may help.

Expectations (prognosis)

Hallervorden-Spatz gets worse and damages the nerves over time. It leads to a lack of movement and often death by early adulthood.

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

Calling your health care provider

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

Jankovic J. Movement disorders. In: Goetz CG, ed. Textbook of Clinical Neurology. 3rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 34.