Hallervorden-Spatz disease

Definition:

Hallervorden-Spatz disease is an inherited, degenerative disease that begins in childhood and involves progressive muscle rigidity, weakness, spasticity, and dementia.

Causes, incidence, and risk factors:

The majority of cases occur in families with a history of the disorder. The pattern of inheritance suggests that this condition is caused by a recessive gene (which means a child needs defective copies of the gene from both parents) located on chromosome 20p.

Symptoms:

Symptoms begin in childhood and are progressive, resulting in death by early adulthood. These include:

dystonia
rigidity/stiffness of limbs
tremor
writhing movements
dementia
spasticity
weakness
seizures
vision changes and degeneration of eyesight

Signs and tests:

Neurological examination shows evidence of muscle rigidity; weakness; and abnormal postures, movements, and tremors. The presence of other affected family members may help determine the diagnosis.

There are no specific genetic tests yet for this condition, so other movement disorders and diseases must be ruled out. MRI findings may show iron deposits.

Treatment:

There is no specific treatment for Hallervorden-Spatz disease. Treatment is aimed at the control of symptoms.

Expectations (prognosis):

Hallervorden-Spatz is a progressive, neurodegenerative illness with immobility early on and death by early adulthood.

Complications:

Complications may result from medication used to treat symptoms.

Calling your health care provider:

Call your health care provider if your child has symptoms of Hallervorden-Spatz disease.

Prevention:

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

Review Date: 7/28/2002
Reviewed By: Elaine T. Kiriakopoulos, M.D., MSc, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard University, Boston, MA. Review provided by VeriMed Healthcare Network.

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