Published by
AVENUES
A National Support Group for Arthrogryposis
Multiplex Congenita
WHAT IS ARTHROGRYPOSIS?
"Arthrogryposis" (Arthrogryposis Multiplex
Congenita) is a term describing the presence of
multiple joint contractures at birth. A
contracture is a limitation in the range of
motion of a joint.
In some cases, few
joints maybe affected and the range of motion
may be nearly normal. In the "classic" case of
Arthrogryposis, hands, wrists, elbows,
shoulders, hips, feet, and knees are affected.
In the most severe cases, nearly every body
joint may be involved, including the jaw and
back. Frequently, the joint contractures are
accompanied by muscle weakness which further
limits movement.
Arthrogryposis is
relatively rare, occurring in perhaps one in
3,000 births.
CAN ARTHROGRYPOSIS
OCCUR AGAIN IN THE SAME FAMILY?
In most cases, Arthrogryposis is not a genetic
condition and does not occur more than once in a
family. In about 30% of the cases, a genetic
cause can be identified. The risk of recurrence
for these cases varies with the type of genetic
disorder.
WHAT CAUSES IT?
Research on animals has shown that anything
which prevents normal joint movement before
birth can result in joint contractures. The
joint itself may be normal. However, when a
joint is not moved for a period of time, extra
connective tissue tends to grow around it,
fixing it in position. Lack of joint movement
also means that tendons connecting to the joint
are not stretched to their normal length; short
tendons, in turn, make normal joint movement
difficult. (This same kind of problem can
develop after birth in joints which are
immobilized for long periods of time in casts.)
In general, there are
four causes for limitation of joint movement
before birth:
(1) Muscles do not
develop properly (atrophy). In most cases, the
specific cause for muscular atrophy cannot be
identified. Suspected causes include muscle
diseases (for example, congenital muscular
dystrophies), maternal fever during pregnancy,
and viruses which may damage cells which
transmit nerve impulses to the muscles.
(2) There is not
sufficient room in the uterus for normal
movement. For example, the mother may lack
normal amount of amniotic fluid, or have an
abnormally shaped uterus.
(3) Central nervous
system and spinal cord are malformed. In these
cases, Arthrogryposis is usually accompanied by
a wide range of other conditions.
(4) Tendons, bones,
joints or joint linings may develop abnormally.
For example, tendons may not be connected to the
proper place in a joint.
WHAT IS THE
TREATMENT?
For most types of Arthrogryposis, physical and
occupational therapy has proven very beneficial
in improving muscle strength and function and
increasing the range of motion of affected
joints. Parents are encouraged to become active
participants in a therapy program and to
continue therapy at home on a daily basis.
Splints can be made to
augment the stretching exercises to increase
range of motion. Casting is often used to
improve foot position. However, emphasis should
be placed on achieving as much joint mobility as
possible. Some type of removable splint (perhaps
a bi- valve cast) maybe used on knees and feet
so that the joints can be moved and muscles
exercised periodically. In some cases, merely
wearing a splint at night may be sufficient.
Surgery should be
viewed as a supportive measure to other forms of
treatment when they have achieved their maximum
result. Surgeries are commonly performed on
ankles to put feet in position for
weight-bearing and walking. Less frequently,
surgery is required on knees, hips, elbows and
wrists to achieve better position or greater
range of motion. In some cases, tendon transfers
have been done to improve muscle function.
In the past, surgeries
were often repeated since the deformities
reoccurred. With newer surgical techniques and
careful follow-up treatment with physical
therapy and splints, surgical success appears to
be much improved. However, before any surgery is
performed, it is important to be aware of the
risks and the amount of improvement which can be
expected. It is wise to seek a second or even a
third opinion before proceeding with surgery. If
possible, talk to someone who's child has had a
similar surgery.
Since the term
Arthrogryposis refers to a group of relatively
rare conditions, few therapists or doctors have
dealt with very many cases. Therefore, it is
advisable to contact doctors and therapists in
treatment centers where a large number of
patients with Arthrogryposis are seen. Contact
AVENUES at the address listed in the back for
the location of treatment centers near you.
WHAT IS THE
OUTLOOK?
There is a wide variation in the degree to which
muscles and joints are affected in those with
Arthrogryposis. In some cases, Arthrogryposis
may be accompanied by other conditions, such as
central nervous system disorders, which
complicate the picture. However, in most cases,
the outlook for those with Arthrogryposis is a
positive one. Unlike many other conditions,
Arthrogryposis is non-progressive. That is, it
does not worsen with age. Furthermore, with
physical therapy and other available treatments,
substantial improvement in function is normally
possible. Most people with Arthrogryposis are of
normal intelligence and are able to lead
productive, independent lives as adults.