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$Unique_ID{BRK04023}
$Pretitle{}
$Title{Muscular Dystrophy, Limb-Girdle}
$Subject{Muscular Dystrophy Limb-Girdle Erb Muscular Dystrophy Leyden-Moebius
Muscular Dystrophy LGMD Muscular Dystrophy I Pelvofemoral Muscular Dystrophy
Kugelberg-Welander Syndrome Muscular Dystrophy Becker Myopathy Scapuloperoneal
Polymyositis }
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

904:
Muscular Dystrophy, Limb-Girdle

** IMPORTANT **
It is possible that the main title of the article (Limb-Girdle 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

     Erb Muscular Dystrophy
     Leyden-Moebius Muscular Dystrophy
     LGMD
     Muscular Dystrophy I
     Pelvofemoral Muscular Dystrophy

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

     Kugelberg-Welander Syndrome
     Muscular Dystrophy, Becker
     Myopathy, Scapuloperoneal
     Polymyositis

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.

Limb-Girdle Muscular Dystrophy is a rare disorder that may be inherited
as an autosomal recessive or, in rare cases, an autosomal dominant trait.
This disorder is characterized by weakness and wasting of the muscles of the
hip and shoulders.  The symptoms of Limb-Girdle Muscular Dystrophy may first
occur during childhood, the second decade of life or during middle age.  The
muscle weakness may spread from the upper limbs to the lower limbs or vice
versa, and it typically progresses slowly although some patients experience a
rapid progression of the disorder.

Symptoms

The major symptoms of Limb-Girdle Muscular Dystrophy are a progressive
wasting and weakness of the muscles of the hip and shoulder areas.  This
weakness may spread from the upper limbs to the lower limbs or vice versa.
Typically the progression of Limb-Girdle Muscular Dystrophy varies although
severe disability in walking is usually seen within twenty to thirty years of
onset.

The first sign of the disorder is usually difficulty in walking up the
stairs or lifting the hands above the head.

The long muscles that stretch over the bone of the upper arm and forearm,
and the muscles just under the skin on the thumb side of the forearm are
weaker than the large muscles that run along the entire length of the back of
the upper arm.

Some patients with Limb-Girdle Muscular Dystrophy may also develop:  neck
muscle weakness and fixed joints (contractures) in later stages of the
disorder; muscles that become swollen with deposits of fat and fiber-like
tissue (pseudohypertrophy); and/or severe lower back pain.

Causes

Limb-Girdle Muscular Dystrophy is a rare form of muscular dystrophy which may
be inherited as an autosomal dominant trait or in some rare cases 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 dominant disorders a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the other normal
gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

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

Limb-Girdle Muscular Dystrophy is a very rare disorder that affects males and
females in equal numbers.  Typically this disorder is detected between the
ages of ten and twenty-five.  A large affected Swiss family has been reported
as well as a group of affected patients in Scotland.

Related Disorders

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

Becker Muscular Dystrophy is a rare muscular disorder inherited as an X-
linked recessive trait.  This disorder is characterized by wasting of the
muscles usually during the second or third decade of life.  This slowly
progressive disorder affects males almost exclusively.  Muscles of the hips
and shoulders are weakened, walking abnormalities develop, and mild mental
retardation may be present.  Eventually, other more severe symptoms may
involve the heart and lungs.  (For more information on this disorder choose
"Becker Muscular Dystrophy as your search term in the Rare Disease Database).

Kugelberg-Welander Syndrome is a rare disorder that is inherited as an
autosomal recessive trait.  Major symptoms of this disorder may include
wasting and weakness in the muscles of the arms and legs, twitching,
clumsiness in walking and eventual loss of reflexes.  This disorder is not
apparent at birth but usually appears during the first ten to twenty years of
life.  (For more information on this disorder, choose "Kugelberg-Welander
Syndrome" as your search term in the Rare Disease Database).

Polymyositis is a systemic connective tissue disorder characterized by
inflammatory and degenerative changes in the muscles, leading to weakness and
some degree of muscle atrophy.  The areas mainly affected are the hip,
shoulder and chest muscle.  The symptoms of this disorder may start gradually
or suddenly and often wax and wane for no apparent reason.  (For more
information on this disorder, choose "Polymyositis" as your search term in
the Rare Disease Database).

Scapuloperoneal Myopathy is a genetic disorder thought to be inherited as
an autosomal dominant trait.  This disorder is characterized by a weakness
and wasting of muscles.  Symptoms are usually limited to the shoulder blade
area and the smaller of the two leg muscle groups below the knee (peroneal).
Facial muscles may be affected in a few rare cases.  The leg symptoms often
appear before the shoulder muscles become weakened.  Progression rate varies
between cases.  This disorder may also occur in combination with several
other disorders.  (For more information on this disorder choose
"Scapuloperoneal Myopathy" as your search term in the Rare Disease Database).

Therapies:  Standard

Patients with Limb-Girdle Muscular Dystrophy may benefit from physical
therapy and support and bracing of weak joints or muscles (orthotics).

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

Therapies:  Investigational

Research on birth defects 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.

Since the genes for several types of muscular dystrophy have been
identified by scientists, it is recommended that patients with Limb-Girdle MD
receive genetic counseling in order to rule out diagnosis of other forms of
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 Limb-Girdle 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]

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

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. 627, 1356.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1184-5.

CLINICAL AND GENETIC INVESTIGATION IN AUTOSOMAL DOMINANT LIMB-GIRDLE
MUSCULAR DYSTROPHY:  J.M. Gilchrist, et al.; Neurology (January, 1988, issue
38(1)).  Pp. 5-9.