
Frequently Asked Questions
What is Arthrogryposis Multiplex Congenita (commonly called AMC)?
The word arthrogryposis comes from the Greek derived "arthro-", joint + "gryposis ", crooking. The word “multiplex” is a Latin derived word meaning “many” or “multiple” and “congenita” is a Latin derived word meaning “existing at or dating from birth”. Therefore, the term Arthrogryposis Multiplex Congenita can be loosely translated as "lots of crooked joints at birth." These joint contractures develop before birth (prenatally) and are evident at birth (congenitally). A newborn with arthrogryposis lacks the normal range of motion in one or more joints. It is really more of a description than a diagnosis, as most people have AMC as a result of another condition.
Which joints are affected by AMC?
Joints affected by AMC may include the jaw, spine, shoulders, elbows, wrists, fingers, hips, knees, ankles, feet and toes -- virtually any and all joints.
How does AMC affect the joints?
The range of motion in the joints of the arms and legs is usually limited or fixed. The impairment of joint mobility in AMC is often accompanied by overgrowth (proliferation) of fibrous tissue in the joints (fibrous ankylosis).
How does AMC develop?
In normal embryonic development, the joints begin to develop by about 5 to 6 weeks of gestation. There are joint spaces by 7 weeks, and the limbs can be seen moving by 8 weeks. This motion of joints is clearly essential to the proper development of the joints and structures around the joints. Limitation of fetal motion/joint motion before birth leads to joint contractures.
What causes limitation of joint motion before birth?
Prenatal limitation of joint mobility can result from:
Neurologic deficits: Including anencephaly, defects of the spine such as spina bifida (meningomyelocele), and nerve deficiencies.
Muscle deficits: Including failure of muscle development (agenesis of muscle), fetal diseases of muscle (fetal myopathy)
Connective tissue and skeletal defects: Including fusion of bones (synostosis), failure of a joint to develop, prenatal fixation of a joint, excess laxity and of dislocation of joints, and fixation of soft tissue around the joint.
Fetal crowding or constraint: Fetal crowding occurs when there is not enough room for the fetus to move around freely in multiple births. Fetal constraint occurs from lack of amniotic fluid (oligohydramnios) due to underproduction of fluid by the fetal kidneys, failure of the fetus to swallow and recirculate the fluid, or chronic leakage of fluid from the uterus.
Maternal disorders: Maternal neuromuscular disorders of myotonic dystrophy, and myasthenia gravis. Maternal use of drugs, maternal infections, and maternal trauma. There is also evolving evidence that maternal multiple sclerosis can be a contributing factor to AMC.
Are there different types of AMC?
AMC is a sign associated with many specific conditions and syndromes. It can be seen in isolation or it can be seen in association with other congenital abnormalities as part of a condition or syndrome.
The basic classification divides affected children into those who:
have only limb involvement
have limb and trunk involvement
have craniofacial or visceral involvement
have severe central nervous system dysfunction.
How is the type of AMC determined?
The type of AMC is determined by the pattern of contractures, as well as
other diagnostic tests. The physician will answer questions such as: are the
contractures symmetrical? Are they only in the hands and feet? Are there
malformations in other body parts? An MRI of the brain is usually done to
rule-out neurological involvement. A muscle biopsy may be done to determine
the extent of the fibrosis of the muscles and look at their cellular
structure. Chromosomal and DNA testing may be done. Not everyone with AMC has
all of these tests, because some types can be ruled out just by observing the
contractures and the muscle movement. Ruling-out or ruling-in various
conditions is called “differential diagnosis”. At times, two medical
conditions have similar presentations; for instance, amyoplasia and Bilateral
Brachial Plexus Palsy look the same at first glance, but only BBPP shows the
abnormal posture when the muscles are active. It is important for you to
understand the type of AMC your child has and how your doctor came to the
diagnosis; don’t be afraid to seek a second opinion.
What is a Geneticist?
You may be referred to a geneticist when the baby is born, or earlier if AMC
is suspected while you are pregnant. Geneticists are specialists who know
about all the little details that determine what particular kind of condition
a child has. Things like ear shape, closeness of the eyes, length of the arms,
all help to make a diagnosis. Proper diagnosis is important, because if there
is an underlying genetic cause of AMC, the prognosis and treatments might be
changed. You should be aware that there is a difference between a clinical
geneticist, who is a physician with special training in genetics, and a
genetic counsellor, who holds a master's degree.
Is AMC fatal?
The life span of affected individuals depends on the disease severity and
associated malformations but is usually normal. Lethal forms of AMC are
reported and often cause miscarriage, stillbirth, or neonatal death.
When this occurs, it is because the malformations are so severe they make it
impossible for the child to live. About 50% of patients with limb involvement
and central nervous system dysfunction die in the first year of
life. Scoliosis may also compromise respiratory function. Infants born with
AMC should have their respiratory status evaluated closely if they encounter
an upper respiratory infection, the underdeveloped chest/abdomen muscles
and/or spinal deformities can compromise an infant’s ability to manage the
congestion involved with an upper respiratory infection.
Does AMC get better?
AMC is considered a non-progressive disorder; this means that it will not get worse with age. The joint contractures that are present will not get worse than they are at the time of birth. In fact, with physical therapy, the contractures frequently improve dramatically! Surgery, stretching, range of motion and physical therapy are currently the cornerstone in management of AMC. Joint contractures can be difficult to manage and you may, at times, experience regression of gains that have been made. Regression of gains made through surgery, physical therapy and stretching is a common occurrence and happens because as the child with AMC grows the connective tissues may not be able to lengthen at the same rate as the child’s growth causing joint contractures to recur. With proper treatment, most children can make significant improvements in their activities of daily life, and live relatively normal lives.
How do you treat AMC?
Treatment consists primarily of surgery, stretching, physical therapy,
joint range-of-motion (ROM) and braces/splinting. Surgery is utilized to
release contracted tissues and improve joint position. Stretching can be
achieved by serial casting, which involves repeated stretching and casting. A
method called the Ponseti Method is a common approach to managing
club-foot associated with AMC. Splinting and bracing is used to maintain joint
position, often with custom-made splints/braces.
Are there any problems they have that I can’t see?
Individuals with AMC frequently require surgical procedures to help
correct joint deformities. The caregivers of a child with AMC should be aware
that there can be problems associated with the administration of anaesthesia
during these surgical procedures. If the child has facial or spinal
deformities intubation can be difficult or impossible. Individuals with AMC
are also more susceptible to the respiratory depressant effects of anaesthesia
because of their muscle weakness, underdevelopment of the lungs or spinal
deformities. It is important to inform the anaesthesiologist of your child’s
diagnosis, even if the surgery has nothing to do with AMC.
The overall development of a child with AMC should be followed by a medical
professional. Developmental skills such as fine motor skills, gross motor
skills, oral and speech development and social development should be followed
closely.
So what can and can’t people with AMC do?
This, again, depends on the severity of the individual’s condition. Some
people have mild enough AMC that their physical activities are limited only
slightly, while others may need assistance to perform daily activities. This
assistance may be in the form of a wheelchair or even a personal aid. The
abilities of a person with AMC are as varied as the presentations of AMC
itself
I’m pregnant, and at the ultrasound the doctors told me my baby might have
AMC, or something worse. I don’t know what happens next.
Many times the diagnosis of AMC is missed completely by ultrasound, but at
times AMC may be mistaken as other diagnosis such as Trisomy 18 .
You have several options at this time. You may want to seek a second opinion of the ultrasound results. You may want to speak to a clinical geneticist. You may consider an amniocentesis. It is important for you to understand all of the options you have and all of the results of tests you have done. If possible bring a friend or family member with you to your appointments, they can provide support and remember the things you may forget during the appointment, (4 ears are always better than 2) and always take
I found out my baby has AMC when she was born. How do I take care of
her?
In most cases of AMC it is most beneficial to begin stretching and massage
immediately—in the hospital if possible. If your doctor does not recommend
immediate stretching, make sure you understand and agree to the reasons they
give you. As always, don’t be afraid to seek a second opinion. Your baby may
appear fragile to you, in most cases of AMC they are not, you will still love
them and care for them as any other child.
Is assistance available for my child with AMC?
Your child will almost certainly qualify for Early Intervention programs,
and may also qualify for financial medical assistance. Talk to a hospital
social worker, who can direct you to the appropriate programs. If you are out
of the hospital, call your local Department of Health, and they should be able
to direct you. Programs vary widely from one state to another. It is to your
benefit to educate yourself to the programs and assistance that are available
to you and your child in your area.
Can people with AMC have kids?
It is recommended that an adult with AMC whom is planning to have a child
seek advice from a medical professional.
WE ENCOURAGE YOU TO JOIN OUR SUPPORT GROUP FORUMS. THERE ARE ANSWERS TO THE QUESTIONS ABOVE AND MANY MORE FROM CAREGIVERS OF CHILDREN WITH AMC THAT HAVE BEEN RIGHT WHERE YOU ARE TODAY. YOU MAY REGISTER AT:
http://www.amcsupport.org/forum/
WE LOOK FORWARD TO HEARING FROM YOU!
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ALL ABOUT UPPER EXTREMITIES
Common Upper Extremity Deformities
Internal Rotation of the Shoulder
Extension of Flexion Contractures of the Elbow
Flexion Contractures of the Wrists
Thumb in Palm
Extension or Flexion Contractures of Individual Fingers
Courses of Treatment
Therapy
O/T should begin as soon as possible to increase passive range of motion. This
can be done through a clinic or at home with your local Early Intervention.
Either way you should be taught stretches to do at home with your child. Here
are some common stretches to try. Always speak to your O/T or Child’s Doctor
before starting any kind of new routine.
Stretches
Thumb- This is hard when your baby is very tiny. Put your thumb in the palm of
your child’s hand and push outward on the thumb at the base of the hand. Be
very careful not to just push on the thumb itself because you can dislocate the
thumb at the joint that connects it to the hand.
Fingers- If in flexion straighten out each finger and hold. If in extension
gently curl finger. Be very careful and do not go beyond your child’s limits.
Do not force anything or you can break their little bones.
Wrists- This is also a very hard stretch on very tiny babies that are very
stiff. Place your thumb under the center of you child’s wrist and push upward
while bracing the top of their wrist with your middle finger straight across.
Elbows- Be sure you find the elbow joint and are bending in the correct
direction. This may sometimes require rotating the arm externally a little bit.
Bend the elbow very slowly and gently. As with any other stretch be very aware
of how your child is feeling. You know the difference between the annoyed
whimper and the cringe of pain. Don’t go any further than your child will
tolerate.
Shoulders- This can vary a lot depending on the actual quality and condition of
your child’s shoulder joint. I would consult an O/T before doing any kind of
shoulder stretches.
Stretches no matter what kind are very important and should be done at least 6
to 8 times a day. A lot of parents do stretches at every diaper change. It makes
1 less thing to remember!
Splinting
Splinting is used less often then therapy. A lot of doctor’s believe they can
restrict movement and sometimes become more cumbersome than helpful. Though not
always effective, splints provide a sustained stretch. They are most often
prescribed for over-night wear. Most often they are wrist splints used to slowly
stretch the wrists out of flexion. There are many types:
Benik- Soft neoprene splints with a metal bar that can be manipulated to give
different amounts of stretch
Custom Made Splints- These are fabricated by an O/T or Orthotist. They are
usually made with the same material as AFO’s and can be custom made to your
child’s hands. They are secured most often with velcro straps.
Elbow splints are prescribed less often. I have not ran across any commercially
manufactured wrist splints that are small enough for children. Often an O/T or
Orthotist can fabricate these using the same splinting material used in AFO’s
or wrist splints. They then attach velcro and a rubber band that connects to a
wrist splint and they provide a sustained stretch while child is relaxed. When
the child wants to they can extend their arms it just takes work for them to do
so. The other down side to this is that it actually strengthens the muscle that
extends the arms, by giving the child the option to extend their arms if they
push out. Though this does not usually outweigh the benefits.
Surgery
Often with children who have little passive elbow flexion, surgery is
recommended. Doctor’s often recommend an elbow release surgery between 8
months and a year. This is a surgery done by releasing the tight fibrous
structures in the elbow that constrict movement. After that if is child still
does not develop any active flexion or enough functional passive flexion
doctor’s may recommend a muscle transfer. This depends on the quality of the
donor muscles as well. Common muscles used are the pecs and a muscle from the
back, Latimus Dorsi. Most doctor’s will not perform this surgery on children
under 4 or 5, but every doctor is different in how aggressively they treat upper
extremity problems. Some doctor’s do not believe this surgery is effective at
all and do not even offer this as an option to their patients. There are also
several hand surgeries that can be performed. For children with a serious
flexion contracture in their wrists a small triangular wedge of bone can be
removed to bring the wrist to a more neutral resting position. There are also
surgeries for thumb in palm, if extremely severe, and various finger surgeries.
This info sheet is not complete - feel free to add to
it as you see fit
Info compiled by Wendy
ALL ABOUT LOWER EXTREMITIES
(coming soon)
EARLY INTERVENTION
Early
intervention services help young children with disabilities achieve their goals
in cognitive, social/emotional, communicative, adaptive, and physical
development. Services may include occupational
therapy (OT) to work on upper extremities/fine motor, physical therapy (PT) to work on Lower Extremities/gross motor
skills, or speech therapy (ST) to
help a child learn to eat, speak, and improve oral motor skills.
Service Coordination through a
local agency (ex: Department of Mental
Health, MRDD, and Department of Education) is provided as well.
Some states also offer developmental
therapy (DT) provided by an Education Specialist or Developmental Therapists
who track general developmental progress and work on pre-academic skills.
Most early intervention services take place in the child’s Natural
Environment; this could be the child’s home, daycare facility, or
babysitter. Parks and other
community facilities are also considered a part of the child’s natural
environment.
Early
Intervention services are crucial to the healthy development of children with
disabilities. Through the years,
early intervention services have proven to be vital to the healthy development
of infants and toddlers with disabilities, minimizing their potential for
developmental delay. With early intervention, the child will decrease the range
of delay when compared to their peers. Early
intervention helps to reduce the need for special education and related services
once the children reach school age. This
lowers the educational cost to local schools.
If
a child is determined through a Multi
Factored Evaluation* (MFE) to have a developmental delay, the EI program
works with the family to develop an Individualized
Family Services Plan (IFSP). *(A MFE assesses a
child’s development in all or some of the following areas: fine and gross
motor, speech, cognitive abilities, adaptive skills, and social skills).
The
IFSP is a written document developed by a team of individuals including the child's parents and representatives
from the state's early intervention program (OT, PT, ST, DT, service
coordinators etc.). The IFSP includes statements about:
Congress created the Early Intervention Program for Infants and Toddlers with Disabilities to help families whose children have special needs. This program is under the umbrella of IDEA and is Titled: Part C. If you feel that your child has a developmental delay, ask your pediatrician about your state’s EI services. Some pediatricians want to wait until children are six months old before referral, if this occurs, you may need to initiate the process yourself. Each state runs their program a little differently, so calling the state coordinator’s office would be a good place to start. The National Early Childhood Technical Assistance Center offers links to each state’s Part C Coordinators. Each state’s office should be able to direct you to your local coordinator. http://www.nectac.org/contact/ptccoord.asp click on PartC and then select your state.
Info
compiled by Michele
TYPES OF THERAPY
Aqua Therapy
Why AQUA-THERAPY?
Aquatic Rehabilitation is fast becoming a leading therapeutic exercise
alternative. Water is an ideal treatment medium for patients with painful joints
and weak muscles, allowing for earlier intervention. The buoyancy of water
dramatically decreases stress on weight bearing joints, bones and muscles. In
addition, water promotes general muscular relaxation and provides consistent
resistance throughout a range of motion while also offering support for injured
or otherwise weak areas, greater tolerance of activity, and easier gains in
range of motion with less pain.
Patient populations benefiting from this form of
therapy include those with:
conditions including: multiple sclerosis & arthritis
Joint Disorders/Replacements
Orthopedic Injuries including
Shoulder
Hip
Knee
Ankle
Back
Chronic Pain
Post Surgical Debilitation
Loss of Motion
Muscle Weakness
Fibromyalgia
The benefits of AQUA-THERAPY are:
Decreased pain
Increased mobility
Increased strength
Improved coordination
Increased muscular endurance
Increased relaxation
Increased flexibility
Improved posture
Improved cardiovascular status
The physical properties of water and their effect on the human body help to
explain the benefits of aquatic therapy (hydrotherapy.) Water's buoyancy
virtually eliminates the effects of gravity - supporting 90 percent of the
body's weight for reduced impact and greater flexibility. For example, a
140-pound woman weighs only 14 pounds in water. Water acts as a cushion for the
body's weight-bearing joints, reducing stress on muscles, tendons and ligaments.
As a result, aquatic workouts are low impact and can greatly reduce the injury
and strain common to most land based exercises.
Due to viscosity, drag forces and frontal resistance, water provides a
resistance which is proportional to the effort exerted against it. Resistance in
water ranges between 4 and 42 times greater than in air, depending on the speed
of movement. This makes water a natural and instantly adjustable weight training
machine. Unlike most land based exercise, water provides resistance to the
movement in all directions which allows all of these directions be used in the
strengthening process. Water's resistance can be increased with speed and/or
surface area and the resistance is proportional to the effort required to move
against it.
The unique properties of water enable your heart to work more efficiently. The
hydrostatic pressure of water pushes equally on all body surfaces and helps the
heart circulate blood by aiding venous return - blood flow back to the heart.
This assistance to the heart accounts for lower blood pressure and heart rates
during deep water exercise versus similar exertions on land.
Movement and resistance properties allow patients a great deal of control...the
patient is in charge! The greater the speed of movement, the greater the
resistance and vice-versa.
http://www.stpta.com/aqua_therapy.htm
http://www.indialife.com/Health/aqua_therapy.htm
http://www.rehaboutlet.com/1004_1.htm
Info compiled by Jenilee
HippoTherapy
Hippotherapy or Therapeutic Riding: What is the difference and how do I know which one is the most appropriate for my child?
1). Consider your child's specific needs:
If you answered "yes" to any of the questions above, then hippotherapy may be the avenue most appropriate for your child at this time.
2). Next, look at the availability of programs within an hour drive of your area. Often there are many riding programs available but few therapists offering hippotherapy. In addition, therapeutic riding lessons may be offered seasonally and/or programs may have waiting lists. These are important factors in your final decision.
3). And finally, consider the costs involved. Riding lessons typically cost less than professional treatment, however, therapy fees may be covered under your health insurance policy. You will need to consult the programs and professional in your area for more information related to your particular situation.
More about the American Hippotherapy Association
Formed in 1993, the American Hippotherapy Association's mission is to promote research, education, and communication among physical and occupational therapists and others using the horse in a treatment approach based on principles of classic hippotherapy. Registered therapists in hippotherapy are located throughout the United States and Canada.
Sites used to provide this information:
http://americanequestrian.com/hippotherapy.htm
http://americanhippotherapyassociation.org/aha_hpot.htm
http://rightsteptherapy.com/hippo.htm
Info compiled by Jen (Isabel's Mommy)
Physical Therapy
Physical therapy also begins very early. A lot of doctors prefer aggressive
physical therapy prior to any splinting or surgery. They want to see how much
motion can actually be gained without the big ordeal of surgery. Most parents
are taught physical therapy to begin immediately with their child. These
stretches are very important and are done many times a day in the first few
months. Many children are also referred to a physical therapist through EI or
their hospital. Physical therapists will also start working on stretches with
your child as well as other activities to help them stay on track
developmentally. They will try to help you figure out ways that your child can
do things, how ever they need to be modified. They will focus on gross motor
skills first such as rolling, sitting, getting to a sitting position, crawling,
standing, walking, and walking up and down stairs. They will also help your
child get use to using any assistive devices your child needs such as crutches,
a gait trainer, or walker. Later on in your child’s life they can also assist
with the transition to school by helping your child practice skills they will
use in school- sitting in a desk, walking down the hallways, playing outside.
This is just a very general outline of physical therapy. Each therapist will
tailor your child’s course of treatment based on your child’s abilities and
what they need to work on as well.
Occupational Therapy
Occupation Therapy? Sounds pretty funny for a child, huh? Your child’s
occupation is performing activities of daily living at age appropriate levels.
These are the things he or she does to “occupy” his or her time. A lot of
time upper extremities take the focus in occupational therapy as much time can
be focused on self feeding (when age appropriate), dressing skills (also age
appropriate), and fine motor skills. Occupational therapists are also trained to
work on “stretching” or increasing range of motion (active or passive) in
your child’s joints. They may also be the one who will assist you will arm
& upper extremity splints. Later in your child’s life you occupational
therapist may also help your child with writing and other fine motor skills
needed for school and other activities of daily living. Occupational therapist
may also assist in ordering adaptive devices for all of these activities such as
special feeders or writing equipment. Finally, occupational therapy done early
on is definitely believed to help children gain the greatest amount of function
possible to perform activities of daily living.
Speech Therapy
Not all children with Arthrogryposis require speech therapy, though it often
begins a very young age in these children. Some children with Arthrogryposis
have physical reasons such as a small palate, small esophagus, and generally
weak muscles including those used for chewing. Other children with require
speech therapy because of oral sensitivity issues such as textures. Yet, others
will require speech therapy due to a delay in actual speech. At a young age they
can begin to work with children on allowing different textures such as rubber
teethers and small vibrations in and around their mouths. At older ages they can
work with children and textures of food. They also can work with children on
many aspects of speech such as understanding (receptive speech) and vocalizing
(expressive speech). They can also help with breath control and some other
weakness related issues that affect speech. Speech therapists vary the
techniques they use very much and sometimes even the most normal activity can
constitute a therapy session. Often times speech therapists will read to a child
or sing to a child and try to get them to sing along as well.
Info for PT, OT, & ST compiled by Wendy (PJ's Mommy)
Cranialsacral
Therapy Coming Soon!
TYPES OF AMC
(coming soon!)
AMYOPLASIA
DISTAL
NEUROGENIC
TrismusPsuedocamptodactyly Syndrome
GENETICS (coming soon!)