1. Running Head: Arthrogryposis Multiplex Congenita 1
Alexandria Amici
OT 334: Occupational Performance I: Pediatrics
Professor Thomas
2/18/16
Common Conditions Assignment:
Arthrogryposis Multiplex Congenita
2. Arthrogryposis Multiplex Congenita 2
Abstract
Arthrogryposis multiplex congenita can also be referred to as arthrogryposis, or
abbreviated as AMC (Hall 2013). AMC is a condition in which concractures develop at
important joints in more than one area of the body. Amyoplasia is the most common form of
AMC, and there are other subtypes as well. Symptoms are present at birth and intensive therapy
begins as soon as possible after initial diagnosis (Hall 2013). The etiology of AMC is unknown,
but there are factors that may be linked to developing it and can also be associated with different
genes. The main symptom of AMC is the contractures at multiple areas of the body restricting
movement at these joints (Hall 2013). AMC may have effects that can impact the functional
performance of a child. Therefore, different areas of occupation will need intensive therapy to
further independence. There are special precautions that need to be met when dealing with these
fragile individuals. Families will also be affected by this condition and may need some support
while helping their child through this.
Condition Description
AMC is a description for the development of concractures affecting more than one area
of the body. A concracture is a condition in which joints become permanently in a flexed or
extended position, which restricts movement. “AMC affects 1 in 3,000 individuals” (Hall 2013).
The most common type of AMC is amyoplasia being 40 % of all cases (Chen 2015). AMC can
be broken down into these two subtypes of amyoplasia and distal arthtogryposis. (Hall 2013)
Distal arthrogryposis has less to do with proximal joints, and there are different forms of this
which are very rare; Freeman-Sheldon syndrome, Gordon syndrome,
trismuspseudocamptodoctyly, multiple pterygium syndrome, and Sheldon-Hall syndrome . “Ten
3. Arthrogryposis Multiplex Congenita 3
percent of these individuals have gastrodschisis” (Hall 2013). Gastrodschisis is having a hole in
your intestinal wall that allows intestines to come out causing major bowel trouble (Hall 2013).
The muscles may be underdeveloped because of the contractures forming around the limbs.
Symptoms
Symptoms are present at birth so that would be the age of onset with the congenital
contractures. Legs are typically affected more often than the arms. Range of deficits includes
most physical aspects of the child (Hall 2013). Intelligence may or may not be affected but lack
of range of motion is a huge problem for children with this condition. The hallmark symptom
for AMC is limited or absent movement around small or large joints; due to contractures. Clients
with AMC usually have severe clubfoot, wrists are flexed, and fingers are flexed and stiff. The
shoulders of a child with AMC may be internally rotated and drawn inward (Chen 2015). Elbows
usually extended to full extension and stuck in this position. There may also be structural of
functional abnormalities of the central or peripheral nervous systems (Hall 2013). Webbing of
the fingers and toes may also occur because they are always so closely packed together. There
are some factors that may be linked to the development of AMC.
Etiology
The cause or etiology of AMC is unknown but it can have different associations with it. It
also depends on the specific type of AMC to determine what the cause might be. AMC is thought
to be related to decreased movement in utero (Hall 2013). Decreased movement in utero can be
because of low amniotic fluids, maternal illness, connective tissue disorders, and limited space in
the womb. AMC may also occur due to genetic mutation because over 125 genes have been
identified as responsible for different types of AMC (Hall 2013). Symptoms may also very
4. Arthrogryposis Multiplex Congenita 4
drastically depending on the cause and type of this condition. Functional performance is
impacted greatly especially in performing ADLs.
Functional Performance
Muscles of affected limbs may be undeveloped. Soft tissue webbing may occur on
affected joints. These children can have abnormally slender long bones of the arms and legs, may
have cleft palate. It is important to start therapy right at infancy (Hall 2013). ADLs are affected
greatly because there is no range of motion in these joints. Range of motion is needed for tasked
such as self feeding, bathing, and dressing. Intensive therapy can lead to independence with
functional ambulation. The key is to start working on exercises right away. AMC can also be
associated with spinal muscular atrophies (Chen 2015). The children cannot walk by themselves
and have very decreased range of motion; this makes performing and self tasks nearly
impossible. AMC affects their ability to work because they cannot walk or move very well.
Social participation, play, and leisure may be difficult due to being wheelchair or walker bound.
Education should be fine as there are no cognitive deficits.
Precautions and Special Considerations
Most newborns will be receiving treatment for AMC (Chen 2015). Therefore, a
precaution is to be very gentle when working on range of motion exercises with these infants
(Chen 2015). Splinting may also be needed to keep the joints from further contracture and
increasing movement in these weak muscles and joints. One must also remember that there is no
cognitive deficit so talk to these children the way they are meant to be talked to. Do not talk
down to them. Be very patient, this therapy process for AMC is slow but rewarding when finally
accomplished.
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Family Considerations
Having an infant with this condition right at birth may scare some new parents. AMC is
not fatal but it is important for the family to be aware and informed of the upcoming struggles
they will face with their child. The family must learn how important therapy is and the need for
consistency. Therapy is the key for children with AMC to eventually walk independently or with
a walker (Chen 2015). They have symptomatic supportive treatment or genetic counseling for
individuals and families. If a parent has an abnormal gene, there is a risk of passing it to
offspring. “50% chance for the pregnancy to result in having AMC, regardless of the sex of the
baby” (Hall 2013). Once one has a child with AMC, it will not recur again in another child.
There have been no reports of recurrence in any of these families.
6. Arthrogryposis Multiplex Congenita 6
References
Hall, J.G.(2013). Arthrogryposis Multiplex Congenita. National Organization for Rare Diseases.
Retreived Feb. 11, 2016 From http://rarediseases.org/rare-diseases/arthrogryposis-
multiplex-congenita/
Chen, H. (2015). Arthrogryposis Treatment&Management. Medscape. Retrieved Feb. 11, 2016
from http://emedicine.medscape.com/article/941917-treatment
7. Arthrogryposis Multiplex Congenita 7
Lexi Amici
Common Conditions Assignment: Arthrogryposis Multiplex Congenita supplementary
materials
1. Condition Description
Arthrogryposis multiplex congenita can also be referred to as arthrogryposis, or
abbreviated as AMC.
AMC is a description for the development of concractures affecting more than
one area of the body.
A concracture is a condition in which joints become permanently in a flexed or
extended position, which restricts movement
Subtypes
Most common type is amyoplasia(40 % of all cases)
amyoplasia
distal arthtogryposis
Distal arthrogryposis has less to do with proximal joints, and there are different forms
of this which are very rare: Freeman-Sheldon syndrome, Gordon syndrome,
trismuspseudocamptodoctyly, multiple pterygium syndrome, and Sheldon-Hall syndrome
Age of onset: symptoms of congenita; contractures are present at birth Intelligence may
or may not be affected but usually is not
Legs are typically affected more than the arms
2. Etiology: amyoplasia occurs sporadically
The cause or etiology of AMC is unknown but it can have different associations with it
AMC is thought to be related to decreased movement in utero
Decreased movement in utero
low amniotic fluids,
maternal illness,
connective tissue disorders
limited space in the womb
May also be due to genetic mutation, over 125 genes have been identified as responsible
for different types of AMC
3. Symptoms& Presentation
The hallmark symptom for AMC is limited or absent movement around small or large
joints; due to contractures
Clients with AMC usually have severe clubfoot, wrists are flexed, fingers are flexed and
stiff
Shoulders may be internally rotated and drawn inward
Elbows usually extended
Effects of Condition
8. Arthrogryposis Multiplex Congenita 8
10% of individuals with AMC have gastrodschisis
AMC affects 1 in 3,000 individuals
Muscles of affected limbs may be undeveloped
Soft tissue webbing may occur on affected joints
Can have abnormally slender long bones of the arms and legs, may have cleft palate
4. Functional Performance
Areas of Occupation
It is important to start therapy right at infancy
Intensive therapy can lead to independence with functional ambulation
The key is to start working on range of motion consistently
AMC can also be associated with spinal muscular atrophies
Most areas of occupation are affected; ADLs and IADLs especially
The children cannot walk by themselves and have very decreased range of motion; this
makes performing and self tasks nearly impossible
Affects their ability to work
Social participation, play, and leisure may be difficult due to being wheelchair or walker
bound
Education should be fine as there is no cognitive deficits
5. Precautions/Considerations
Most newborns will be receiving treatment for AMC
A precaution is to be very gentle when working on range of motion exercises with these
infants
Splinting may also be needed
6. Family Considerations
They have symptomatic supportive treatment or genetic counseling for individuals and
families
If a parent has an abnormal gene, there is a risk of passing it to offspring
50% chance for the pregnancy regardless of the sex of the baby
Once one has a child with AMC, it will not recur again in another child
