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$Title{Joseph's Disease}
$Subject{Joseph's Disease Stiatonigral Degeneration Type I Joseph's Disease
Type II Joseph's Disease Type III Joseph's Disease (Machado's Disease) }
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Copyright (C) 1986, 1989, 1990 National Organization for Rare Disorders,
Inc.

110:
Joseph's Disease

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

Synonyms

     Stiatonigral Degeneration

DISORDER SUBDIVISIONS

     Type I Joseph's Disease
     Type II Joseph's Disease
     Type III Joseph's Disease (Machado's Disease)

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.


Joseph's Disease is a disorder of the central nervous system with slow
degeneration of particular areas of the brain.

Symptoms

The patient with Type I Joseph's Disease presents with the initial symptoms
of a lurching, unsteady gait.  This is often accompanied by difficulty in
speaking (dysarthria) and muscle rigidity.  Impairment of eye movements may
also occur.  Mental alertness and intellect are preserved.

Type II Joseph's Disease is less rapid in progression than Type I.  Its
clinical presentation is similar to that of Type I except there appears to be
a stronger cerebellar component.  The cerebellum is the part of the brain
which coordinates balance and precise movements.  Therefore, these patients
have difficulty in walking and in coordinating movement of the extremities.

The initial symptom of Type III Joseph's Disease is an alteration in the
patient's ability to walk due to impaired balance (ataxia).  The
distinguishing characteristic of this form of Joseph's Disease is a loss of
muscle mass, and a disturbed sensation and movement of the extremities.
Diabetes is also common in Type III Joseph's Disease.

Causes

Joseph's Disease is a disorder of the central nervous system which primarily
affects people of Portuguese ancestry.  It involves a slow degeneration of
particular areas of the brain which result in neurological impairment.  The
disorder is inherited through an autosomal dominant mode of transmission.

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 dominant disorders, a single copy of the disease
gene (received from either the mother or father) will be expressed
"dominating" the normal gene and resulting in appearance of the disease.  The
risk of transmitting the disorder from affected parent to offspring is 50%
for each pregnancy regardless of the sex of the resulting child.

Further studies will be necessary to determine whether the three types of
Joseph's Disease are due to three different gene abnormalities or the
expression of a single gene.

Affected Population

Joseph's Disease occurs primarily in individuals of Portuguese ancestry.

Type I usually begins about the age of 20 years, Type II Joseph's Disease
usually begins later in life around the age of 30 years, and Type III
(Machado's Disease) usually occurs after 40 years of age.

Therapies:  Standard

Treatment of Joseph's Disease is symptomatic and supportive.  Rigidity and
spasticity of the muscles may respond to the drugs L-Dopa and baclofen.
Genetic tests for this disorder are available to families in which at least
one member has been affected with Joseph's Disease.

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 Joseph's Disease, please contact:

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

     International Joseph Diseases Foundation, Inc.
     P.O. Box 2550
     Livermore, CA  94550

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

     Roger N. Rosenberg, M.D.
     Professor of Neurology and Physiology
     Chairman, Department of Neurology
     University of Texas Southwestern Medical School
     5323 Harry Hines Blvd.
     Dallas, TX  75235
     (214) 688-3703

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

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 88.