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$Title{Hallervorden-Spatz Disease}
$Subject{Hallervorden-Spatz Disease Progressive Pallidal Degeneration
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Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.

179:
Hallervorden-Spatz Disease

** IMPORTANT **
It is possible the main title of the article (Hallervorden-Spatz Disease)
is not the name you expected.  Please check the SYNONYMS listing to find
alternate names and disorder subdivisions covered by the article.

Synonyms

     Progressive Pallidal Degeneration Syndrome

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Hallervorden-Spatz Disease is a disorder which causes degeneration of the
nervous system.  The most common age of onset is eight years, although the
disorder may occur from birth to 20 years of age.

Symptoms

The patient with Hallervorden-Spatz Disease may develop dystonia (a slow,
steady muscle contraction distorting limbs, neck, face, mouth or trunk into
certain positions), muscular rigidity (uncontrolled tightening of the
muscles), and choreoathetosis (spontaneous, non-repetitive, slow writhing
movements, usually of the extremities).  Spasticity (muscle spasm) is present
in one third of affected individuals.  Less common symptoms are dysarthria
(difficulty in speaking), mental retardation, facial grimacing, dysphasia
(impaired speech), muscle atrophy (shrinking) and seizures.  Symptoms vary in
different individuals.

Causes

Hallervorden-Spatz Disease is transmitted as an autosomal recessive genetic
disorder.  (Human traits including the classic genetic diseases, are the
product of the interaction of two genes for that condition, one received from
the father and one from the mother.  In recessive disorders, the condition
does not appear unless a person inherits the same defective gene from each
parent.  If one receives one normal gene and one gene for the disease, the
person will be a carrier for the disease, but usually will show no symptoms.
The risk of transmitting the disease to the children of a couple, both of
whom are carriers for a recessive disorder, is twenty-five percent.  Fifty
percent of their children will be carriers, but healthy as described above.
Twenty-five percent of their children will receive both normal genes, one
from each parent and will be genetically normal.)

The disorder may occur in one or more than one child in a family.  If
more than one sibling is affected, their symptoms will be similar.  Different
families, however, will often have different variations of the disease as
related to symptoms and progression.

Related Disorders

Other movement disorders such as static encephalopathy, Sandifer's Syndrome,
Benign Paroxysmal Torticollis and infections and tumors of the spine and soft
tissues of the neck may also cause dystonic symptoms or uncontrolled muscle
contractions.

Therapies:  Standard

Treatment of Hallervorden-Spatz Disease is symptomatic and supportive.

Therapies:  Investigational

This disease entry is based upon medical information available through
January 1990.  Since NORD's resources are limited, it is not possible to keep
every entry in the Rare Disease Database completely current and accurate.
Please check with the agencies listed in the Resources section for the most
current information about this disorder.

Resources

For more information on Hallervorden-Spatz Disease, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     (203) 746-6518

     Dystonia Clinical Research Center at Columbia Presbyterian Hospital
     710 W. 168th St.
     New York, NY  10032

     Dystonia Medical Research Foundation
     8383 Wilshire Blvd.
     Beverly Hills, CA  90211
     (213) 852-1630

     Dystonia Medical Research
     1 E. Wacker Dr., Suite 2900
     Chicago, IL  60601-2098

     United Leukodystrophy Foundation
     2304 Highland Dr.
     Sycamore, IL  60178
     (815) 896-3211

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5751
     (800) 352-9424

     Research Trust for Metabolic Diseases in Children
     Golden Gates Lodge, Weston Rd.
     Crewe CW1 1XN, England
     Telephone:  (0270) 250244

     Association Europeenne contre les Leucodystrophies
     7 Rue Pasteur
     54000 NANCY
     France

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

THE MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  P. 1421.

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 976.