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!

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 for wrists should be started as early as possible to take advantage of the infant’s  flexibility. In remote areas splinting  is used less often than therapy but  the sustained stretch at night and ¾ of the day  up to about age 2 will gain the best results . Some doctors believe splints 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. There are not  any commercially manufactured wrist splints that are small enough for children. Often an O/T or Orthotist can fabricate these using the  thermoplastic splinting material for wrist splints (similar to that used in AFO’s). 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. A static elbow trough-like splint for night and nap use may gain better results than the dynamic one described.


Surgery
Often with children who have little passive elbow flexion, surgery is recommended. Doctors often recommend an elbow release (tricepsplasty) surgery between 8 months and a year but may be delayed to assure that the child is up and walking before changing the power of straight elbows. 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 doctors may recommend a muscle transfer to give elbow flexion (bending). This depends on the quality of the donor muscles as well. Common muscles used are the pecs (pectoralis major)  and a muscle from the back, Latissimus dorsi.  Most doctors will not perform this surgery on children under 4 or 5, because the child needs to participate in the therapy following the surgery to re-train the muscle motion, wear splints to protect the transfer, etc. Every doctor is different in how aggressively they treat upper extremity problems. Some doctors do not believe this surgery is effective at all and may not  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 (wedge osteotomy) 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.


 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. 

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

HippoTherapy 

What is Hippotherapy?

Hippotherapy is a treatment that uses the multidimensional movement if the horse; from the Greek word "hippos" which means horse.  Specially trained physical, occupational and speech therapists use this medical treatment for clients who have movement dysfunction.  Historically, the therapeutic benefits of the horse were recognized as early as 460 BC.  The use of the horse as therapy evolved throughout Europe, the United States, and Canada.

 

Hippotherapy uses activities on the horse that are meaningful to the client.  Treatment takes place in a controlled environment where graded sensory input can elicit appropriate adaptive responses from the client.  Specific riding skills are not taught (as in therapeutic riding), but rather a foundation is established to improve neurological function and sensory processing.  This foundation can then be generalized to a wide range of daily activities. 

 

Why the Horse?

The horse's walk provides sensory input movement which is variable, rhythmic, and repetitive.  The resultant movement responses in the client are similar to human movement patterns of the pelvis while walking.  The variability of the horse's gait enables the therapist to grade the degree of sensory input to the client, then use this movement in combination with other clinical treatments to achieve desired results.  Clients respond enthusiastically to this enjoyable learning experience in a natural setting.

 

Physically, hippotherapy can improve balance, posture, mobility, and function,  Hippotherapy may also affect psychological, cognitive, behavioral and communication functions for clients of all ages. 

 

General Indications for Hippotherapy

 

Impairments that may be modified with hippotherapy are:

Functional limitations relating to the following general areas may be improved with hippotherapy:

Medical Conditions:

 

Clients who may benefit from hippotherapy can have a variety of diagnoses. Some examples of these primary medical conditions, which may manifest some or all of the above problems and may be indications for hippotherapy are listed below.  However, hippotherapy is not for every client.  Each potential client must be evaluated on an individual basis by specially trained health professional. 

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

http://narha.org

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 with arm & upper extremity splints. Later in your child’s life your occupational therapist may also help your child with writing and other fine motor skills needed for school and other activities of daily living. Occupational therapists 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.


Cranialsacral Therapy Coming Soon!

TYPES OF AMC (coming soon!)

AMYOPLASIA
DISTAL
NEUROGENIC
TrismusPsuedocamptodactyly Syndrome

GENETICS (coming soon!)