MedlinePlus Medical Encyclopedia: Hallervorden-Spatz disease

Skip navigation


Medical Encyclopedia
Other encyclopedia topics:	A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9

Hallervorden-Spatz disease

Contents of this page:
Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Expectations (prognosis) Complications Calling your health care provider Prevention

Definition

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

Causes, incidence, and risk factors

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

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

Signs 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 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.

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.

Expectations (prognosis)

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

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.

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.

Update Date: 8/12/2004

Updated by: Joseph V. Campellone, M.D., Division of Neurology, Cooper University Hospital, Camden, NJ. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.