$Unique_ID{BRK04017}
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$Title{Muscular Dystrophy, Batten Turner}
$Subject{Muscular Dystrophy, Batten Turner Benign Congenital Muscular
Dystrophy Syndrome BTMD Batten Turner Muscular Dystrophy Syndrome Batten
Turner Syndrome }
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Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc.

139:
Muscular Dystrophy, Batten Turner

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

Synonyms

     Benign Congenital Muscular Dystrophy Syndrome
     BTMD
     Batten Turner Muscular Dystrophy Syndrome
     Batten Turner 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 the disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Batten Turner Muscular Dystrophy Syndrome is a benign congenital form of
muscular dystrophy characterized by frequency in stumbling and falling in
early childhood.  Unlike the Duchenne variety of muscular dystrophy which
typically is present in young boys, Batten Turner Syndrome affects both
sexes.

Symptoms

Batten Turner Muscular Dystrophy Syndrome usually follows the myopathic
pattern of muscular disease manifesting itself in early childhood.  Symptoms
may first appear as a floppiness in infancy.  This is followed by frequent
falling and stumbling which are associated with a mild muscular weakness and
generalized loss of muscle tone (hypotonia).  There may be a slight delay on
reaching milestones or early motor development.  In particular, the pelvic
girdle, neck and shoulder girdle may be affected.

Although walking usually becomes normal later in life, there may be a
residual handicap in the performance of physical activities.  Fractures and
paralysis are not a problem.

Causes

The precise cause of Batten Turner Muscular Dystrophy is not known.  However,
the disorder may be inherited as an autosomal recessive trait.  (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
other.  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.)

Affected Population

Batten Turner Muscular Dystrophy Syndrome affects infants and young children.
Both sexes are equally affected.

Therapies:  Standard

Patients with Batten Turner Muscular Dystrophy should be encouraged to
exercise.  It is important to guard against obesity.  The prognosis is
favorable with minimal muscular deficiency.  Quite often, the patient
encounters no major physical handicaps.

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 Batten Turner Muscular Dystrophy, please contact:

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

     Muscular Dystrophy Association, National Office
     3300 E. Sunrise Dr.
     Tucson, AZ  85718
     (602) 529-2000

     Muscular Dystrophy Group of Great Britain and Northern Ireland
     Nattrass House
     35 Macaulay Road
     London, England  SW4  0QP
     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
     (301) 496-5751
     (800) 352-9424

For genetic information 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

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W. B. Saunders Co., 1988.  Pp. 2272-5.

THE MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  P. 1451.