Most cases of Hallervorde-Spatz are due to a mutation in the gene responsible for making a protein called pantothenate kinase 2. Patients with a mutated form of this gene accumulate iron in parts of the brain, especially the basal ganglia.

Symptoms typically begin in childhood and are progressive, often 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

A neurological examination would show evidence of muscle rigidity; weakness; and abnormal postures, movements, and tremors. If other family members are also affected, this may help determine the diagnosis.

Genetic tests can confirm an abnormal gene causing the disease. However, this test is not yet widely available. Other movement disorders and diseases must be ruled out. An MRI usually shows iron deposits in the basal ganglia.

The goal of treatment is to control the symptoms. Although there is no specific treatment for Hallervorden-Spatz disease, many believe taking certain vitamins may be beneficial, including pantothenate, Coenzyme Q, and other anti-oxidants.

Hallervorden-Spatz is a progressive, degenerative nerve illness. It leads to early immobility and often death by early adulthood.

Complications may result from the medication used to treat symptoms. Immobility from the disease can also lead to skin breakdown, respiratory infections, and blood clots, among others.

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

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