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$Unique_ID{BRK04024}
$Pretitle{}
$Title{Muscular Dystrophy, Oculo-Gastrointestinal}
$Subject{Muscular Dystrophy Oculo-Gastrointestinal Intestinal
Pseudoobstruction with External Ophthalmoplegia Oculogastrointestinal Muscular
Dystrophy Ophthalmoplegia-Intestinal Pseudoobstruction Viceral
Myopathy-External Ophthalmoplegia Intestinal Pseudoobstruction Kearns-Sayre
Syndrome Muscular Dystrophy Oculopharyngeal Ophthalmoplegia Progressive
External}
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

905:
Muscular Dystrophy, Oculo-Gastrointestinal

** IMPORTANT **
It is possible that the main title of the article (Oculo-Gastrointestinal
Muscular Dystrophy) is not the name you expected.  Please check the SYNONYMS
listing to find the alternate name and disorder subdivisions covered by this
article.

Synonyms

     Intestinal Pseudoobstruction with External Ophthalmoplegia
     Oculogastrointestinal Muscular Dystrophy
     Ophthalmoplegia-Intestinal Pseudoobstruction
     Viceral Myopathy-External Ophthalmoplegia

Information on the following diseases can be found in the Related
Disorders section of this report:

     Intestinal Pseudoobstruction
     Kearns-Sayre Syndrome
     Muscular Dystrophy, Oculopharyngeal
     Ophthalmoplegia, Progressive External

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.

Oculo-Gastrointestinal Muscular Dystrophy is a very rare form of muscular
dystrophy that affects females more often than males.  It is inherited as an
autosomal recessive trait.  The major characteristics of this disorder are
droopy eyelids (ptosis), loss of movement of the external muscles of the eye
(external ophthalmoplegia), and a progressive condition in which the
intestinal walls are unable to contract normally causing abdominal pain,
diarrhea, constipation, and malabsorption of nutrients (progressive
intestinal pseudo-obstruction).

Symptoms

Symptoms of Oculo-Gastrointestinal Muscular Dystrophy may be apparent during
childhood or may not appear until late adulthood.  Patients with childhood
onset tend to have a rapid progression of the disorder while patients with
the adult onset type usually have a milder course.

The main symptoms of this disorder are droopy eyelids, loss of movement
of the external muscles of the eye (external ophthalmoplegia), and a
progressive condition in which the intestinal walls are unable to contract
normally (progressive intestinal pseudo-obstruction).

Intestinal Pseudo-Obstruction is a digestive disorder in which the
intestinal walls do not contract normally (peristalsis) and consequently food
does not move forward normally through the digestive tract.  This problem is
often presumed to be caused by an intestinal obstruction, but no such
blockage exists.  Abdominal pain, diarrhea, constipation, malabsorption of
nutrients leading to weight loss and/or (in infants) failure to thrive,
enlargement of various parts of the small intestine or bowel and/or vomiting
may occur.

Other symptoms found in some patients with Oculo-Gastrointestinal
Muscular Dystrophy may be:  weakness of the sides of the face; swelling and
wasting of the nerves on the sides of the body, hands and feet; diminished
sensitivity to stimulation and/or a decrease in deep tendon reflexes.

Causes

Oculo-Gastrointestinal Muscular Dystrophy is thought to be inherited as an
autosomal recessive trait.  Human traits, including the classic genetic
diseases, are the product of the interaction of two genes, 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 for the same
trait 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 not
show 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.

Affected Population

Oculo-Gastrointestinal Muscular Dystrophy is a very rare disorder that
affects females more often than males with a ratio of six females to every
one male.  This disorder may occur at birth or symptoms may first occur
during the fifth decade of life.

There have been approximately seven cases of this type of muscular
dystrophy reported in the medical literature.

Related Disorders

Symptoms of the following disorders can be similar to those of Oculo-
Gastrointestinal Muscular Dystrophy.  Comparisons may be useful for a
differential diagnosis:

Intestinal Pseudoobstruction is a digestive disorder that may occur with
no known cause or as a component of various other disorders such as
Scleroderma, Myxedema, Amyloidosis, Muscular Dystrophy, Hypokalemia, Chronic
Renal Failure, or Diabetes Mellitus.  Drug toxicity as result of
anticholinergic drugs and opiate narcotics may also cause Intestinal
Pseudoobstruction.  Symptoms are thought to be caused by paralysis of the
intestines or abnormalities of the nerves in the intestinal wall.  (For more
information on this disorder, choose "Intestinal Pseudoobstruction" as your
search term in the Rare Disease Database).

Kearns-Sayre Syndrome is a rare neuromuscular disorder characterized by
paralysis of the eye, face and mouth muscles in combination with vision and
hearing deficits.  The heart muscle is always involved and in some patients
brain function can be affected.  (For more information on this disorder,
choose "Kearns-Sayre Syndrome" as your search term in the Rare Disease
Database).

Oculopharyngeal Muscular Dystrophy is a rare disorder that typically
presents itself during the fourth to eighth decades and is inherited as an
autosomal dominant trait.  Symptoms of this disorder are drooping of the
upper eyelids, progressive difficulty in swallowing, weakness of the muscles
of the throat and eventually, weakness of the muscles of the shoulder and
pelvic girdles.  Oculopharyngeal Muscular Dystrophy affects males and females
equally.

Progressive External Ophthalmoplegia is a rare disorder in which there is
drooping of both upper eyelids.  This is followed by the loss of movement of
the eye (ophthalmoplegia).  Patients eventually develop a backward tilt of
the head in order to compensate for the eye problems.  This disorder is often
associated with diabetes mellitus, hypoparathyroidism, hyperaldosteronism,
thyroid disease, ataxia, spasticity, degeneration of the retina and other
disorders.  Progressive External Ophthalmoplegia can be a symptom of another
disorder or it may be inherited.

Therapies:  Standard

In severe cases of Intestinal Pseudoobstruction patients may require long-
term parenteral or enteral nutrition.  In parenteral feeding a patient is fed
through a tube directly into the veins (intravenous), beneath the skin, into
a muscle, or into the bone marrow of the spinal cord.  Enteral feeding
involves being fed through a tube directly into the stomach.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

The orphan drug cisapride, which induces motility in the intestines
(peristalsis) is being tested for treatment of Intestinal Pseudoobstruction.
Further testing is required since results have not been fully documented for
all but the most severe cases of Intestinal Pseudoobstruction.  The drug is
manufactured by Janssen Pharmaceutica.  For more information, physicians can
contact:

     Pediatric Gastrointestinal Motility Center
     Dr. Paul Hyman, Chief
     Harbor UCLA Medical Center
     1124 W. Carson St., Trailer C-1
     Torrance, CA  90502

Research on birth defects, inherited disorders and their causes is
ongoing.  The National Institutes of Health (NIH) is sponsoring the Human
Genome Project which is aimed at mapping every gene in the human body and
learning why they sometimes malfunction.  It is hoped that this new knowledge
will lead to prevention and treatment of genetic disorders in the future.
The genes that cause several types of muscular dystrophy have been
identified, and scientists are studying ways to replace the proteins
manufactured by these genes in the muscles of people with muscular dystrophy.

This disease entry is based upon medical information available through
April 1992.  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 Oculo-Gastrointestinal Muscular Dystrophy, please
contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Muscular Dystrophy Association, National Office
     3300 E. Sunrise Dr.
     Tucson, AZ  85718
     [phone]

     Muscular Dystrophy Group of Great Britain and Northern Ireland
     Nattrass House
     35 Macaulay Road
     London, England  SW4 OQP
     01-720-8055

     Society for Muscular Dystrophy International
     P.O. Box 479
     Bridgewater, Nova Scotia, Canada B4V 2X6

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     American Society of Adults with Pseudoobstruction
     19 Carrol Rd.
     Woburn, MA  01801
     [phone]

     North American Pediatric Pseudoobstruction Society
     16 Mammmola Way
     Medford, MA  02155
     [phone]

For information on Parenteral or Enteral Nutrition, contact:

     PEN Parent Education Network
     203 Brookfield Dr.
     Straford, WI  54484
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 1526.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp.  1185-6.

OCULOGASTROINTESTINAL MUSCULAR DYSTROPHY:  V. Ionasescu, Am J Med Genet
(May, 1983, issue 15(1)).  Pp. 103-12.