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Hallervorden-Spatz disease
Definition
Hallervorden-Spatz disease is a movement disorder that is passed down through families (inherited).
Causes
Hallervorden-Spatz is a disease that slowly gets worse (is degenerative). It usually begins in childhood. The condition involves muscle rigidity, weakness, and movement problems.
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 build up of iron in parts of the brain, especially the basal ganglia.
Symptoms
Symptoms typically begin in childhood and slowly get worse, often resulting in death by early adulthood. These include:
Exams and Tests
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 if the patient has the defect gene that causes 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.
Treatment
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.
Outlook (Prognosis)
Hallervorden-Spatz is a progressive, degenerative nerve illness. It leads to early immobility and often death by early adulthood.
Possible Complications
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.
When to Contact a Medical Professional
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.
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