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$Title{Arthrogryposis Multiplex Congenita}
$Subject{Arthrogryposis Multiplex Congenita AMC Congenital Multiple
Arthrogryposis Fibrous Ankylosis of Multiple Joints Neurogenic Arthrogryposis
Multiplex Congenita Myopathic Arthrogryposis Multiplex Congenita Guerin-Stern
Syndrome Amyoplasia Congenita}
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Copyright (C) 1986, 1988, 1990, 1991 National Organization for Rare
Disorders, Inc.

211:
Arthrogryposis Multiplex Congenita

** IMPORTANT **
It is possible the main title of the article (Arthrogryposis Multiplex
Congenita) is not the name you expected.  Please check the SYNONYMS listing
on the following page to find the alternate names and disorder subdivisions
covered by this article.

Synonyms

     AMC
     Congenital Multiple Arthrogryposis
     Fibrous Ankylosis of Multiple Joints

DISORDER SUBDIVISIONS

     Neurogenic Arthrogryposis Multiplex Congenita
     Myopathic Arthrogryposis Multiplex Congenita
     Guerin-Stern Syndrome
     Amyoplasia Congenita

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.


Arthrogryposis Multiplex Congenita is a congenital disease characterized
by reduced mobility of multiple joints at birth due to proliferation of
fibrous tissue (fibrous ankylosis).

Symptoms

In typical Arthrogryposis Multiplex Congenita (AMC), the range of motion of
the joints of all limbs is limited or fixed.  The shoulders are bent inward
and internally rotated, the elbows are extended, and the wrists and fingers
are bent.  The hips may be dislocated and are usually slightly bent, the
knees are extended, and the heel is bent inward from the midline of the leg
while the foot is bent inward at the ankle (typical clubfoot).

The muscles are underdeveloped (hypoplastic) and the limbs tend to be
tubular in shape and featureless.  Soft tissue webbing is often present over
the side of fixed joints.

The spine is usually not involved, and apart from slenderness of the long
bones, x-rays of the skeleton are normal.  Occasional associated
abnormalities include cleft palate, failure of the testes to descend into the
scrotum, cardiac lesions, and urinary tract malformations.

The physical handicap may be severe, but intelligence is usually
unimpaired.  A relatively common, atypical form of AMC is characterized by
limited joint involvement and absence of muscle wasting and its associated
abnormalities.  Reduced facial gesticulation confers a melancholy appearance
to patients afflicted with AMC.

Causes

The cause of Arthrogryposis Multiplex Congenita (AMC) is unknown.  Most types
of AMC are not hereditary.  However, autosomal recessive heredity has been
reported in one large inbred Arabic kindred in Israel.  (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.)

AMC may be primarily a neurological disorder.  There is evidence of
nervous system involvement both by microscopic study of the tissues and by
recording and studying the electrical properties of the muscles.  AMC may
also be a muscle disease with muscle fiber changes shown by electromyography.
Neurogenic and myopathic AMC may correspond with typical and atypical
clinical forms, but this has not as yet been proven.

A severe outbreak of Arthrogryposis in newborn lambs occurred during 1987.
It was found that ewe mothers and fetuses had been infected by the Cache
Valley virus which is transmitted by mosquitos to various mammals.
Scientists are trying to determine whether the CVV infection causes
Arthrogryposis in human fetuses.  The virus is prevalent in the Western
hemisphere.

Affected Population

Both males and females are affected equally by Arthrogryposis Multiplex
Congenita.  The disorder is congenital (a person is born with the disorder;
it can not be acquired after birth).

Related Disorders

Pterygium Syndrome is an autosomal recessive hereditary disorder
characterized by a wing-like structure (pterygium) around several joints.
Popliteal Pterygium Syndrome is a combination of a wing-like structure behind
the knee joint, cleft lip and palate, lower lip pits, congenital adhesion of
the margins of the upper and lower eyelids by filamentous bands, and genital
and digital anomalies.  This disorder may be transmitted as an autosomal
dominant trait.  Amyoplasia congenita is characterized by a generalized lack
of muscular development and growth, with contracture and deformity at most of
the joints.  Bonnevie-Ulrich Syndrome is a condition characterized by a thick
fold of skin on the side of the neck which extends from the lower jaw region
to the highest point of the shoulder producing a congenital webbed neck, eyes
set far apart, short stature, and other developmental anomalies.

Therapies:  Standard

The deformities of Arthrogryposis Multiplex Congenita (AMC) are usually
severe at birth.  The disease is usually not progressive.  Orthopedic
correction is usually required.  The angle of joint deformity (ankylosis) can
be surgically altered, but enhanced mobility is sometimes difficult to
attain.  Active physiotherapy and manipulation during the first few months of
life may produce considerable improvement.  Surgery should be viewed as a
supportive measure to other forms of treatment such as physical therapy.
Surgery may be required on ankles, knees, hips, elbows or wrists to achieve
better position or greater range of motion.  In some cases, tendon transfers
have been performed to improve muscle function and joint mobility.

Splints can be made to augment the stretching exercises to increase range
of motion.  Removable splints (e.g., a bi-valve cast) may be used on knees
and feet so that the joints can be moved and muscles exercised regularly.

Therapies:  Investigational

This disease entry is based upon medical information available through March
1991.  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 Arthrogryposis Multiplex Congenita, please contact:

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

     Support Group for Arthrogryposis Multiplex Congenita
     P.O. Box 5192
     Sonora, CA  95370
     [phone]

     Arthrogryposis Support Group
     1 The Oaks
     Chesterfield, Derbyshire
     S40 2LG England

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

     The Magic Foundation
     1327 N. Harlem Ave.
     Oak Park, IL  60302
     [phone]

     Human Growth Foundation (HGF)
     P.O. Box 3090
     7777 Leesburg Pike
     Falls Church, VA  22043
     1-800-451-6434

     Short Stature Foundation
     17200 Jamboree Rd., Suite J
     Irvine, CA  92714-5828
     [phone]
     800-24 DWARF

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

     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, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  P. 80.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L.
Jones, M.D., W.B. Saunders, Co. 1988.  Pp. 140-1.