Frequently Asked Questions

We encourage care givers and people affected with arthrogryposis multiplex congenita (AMC)  to join our support facebook group AMCSI. 

What is Arthrogryposis Multiplex Congenita (commonly called AMC)?

The recognized definition of Arthrogryposis Multiplex Congentia is a condition that causes congenital contractures of two or more body parts. It is not a diagnosis but a umbrella term that is connected to over 300-400 more specific conditions and syndromes. Those conditions and syndromes happen for a variety of reasons but what they all have in common is the fact fetal akinesia occurred during pregnancy. Fetal akinesia is the term used to describe lack of motion during pregnancy. This lack of movment then causes a person to be born with stiff or crooked joints that have very little range of motion, or no range of motion at all. Arthro means joint, Gryposis means crooked, multiplex means multiple and congenita means existing at birth hence the name Arthrogryposis Multiplex Congenita.

How Does AMC develop?

At about the 5th to 6th week of pregnancy, the baby is still considered a embryo and joints begin to develop. The joint spaces develop by 7 weeks, and the limbs normally should be moving by 8 weeks of pregnancy. This motion of joints is extremely important, as it allows the joints and structures around the joints (skin, ligaments, and muscles for example) to develop. After 8 weeks of pregnancy the  baby moves from embryo to fetus and IF the joints do not move the ligaments and tendons that cross the joint do not get stretched normally. In fact, the skin does not move normally either, which is why people with AMC often are missing the normal wrinkles that the rest of us have around our joints. A few reasons why a fetus may not move their joints : problems with the muscles, problems with the nerves going to the muscles, problems with the signals coming from the spinal cord or a problem with the brain.

How is the type of AMC determined?

The type of AMC is usually determined by what joints are affected at birth and how the contractures present themselves on the body. The doctor will perform a thorough physical examination taking a close look at all areas of the body such as the head, face, spine, abdomen, arms, legs, fingers and toes, to determine where the contractures are, and how they are affecting the body. AMC can affect major systems of the body such as the nervous and digestive systems as well as major organs so your doctor may order further testing depending on the findings of the physical examination. These further tests can include an MRI of the brain and spine and blood work to look at chromosomes. If the cause of AMC cannot be determined upon first evaluation don’t be discouraged. Remember AMC is RARE and it can sometimes be difficult to pin point just what caused it. Also some aspects of AMC become more obvious over time which then can lead to a more solid diagnosis. It is also important to point out that many doctors are inexperienced with AMC so it is highly suggested to do some research and find a doctor experienced treating AMC patients.

Are there different types of AMC?

There are 300-400 types of conditions and syndromes that can cause AMC. To simplify it, there are 3 basic groups that babies born with AMC can be divided into:

  • Amyoplasia –  A = no, myo=muscle, plasia=growth. Literally meaning no muscle growth. Amyoplasia is the most common type of AMC. It is estimated that one third of people born with AMC will have Amyoplasia about 1 in 10,000 and its typically referred to as  ‘Classical type AMC.’ This is considered the non-genetic type of AMC, meaning there has been no mutation in the genes to cause the condition to be present, and it has not been something passed down from the parents. People with Amyoplasia usually have normal to above average intelligence with normal undamaged brain development.
  • Distal – Distal arthrogryposis (DA) primarily affects the hands and feet. Other areas and body functions CAN be affected depending on what type of DA one has. There are currently 20+ different types all of which are linked back to genetic mutations. The best way to learn about you or your child’s specific type of DA is to discuss it with health care providers and people in the AMC community.
  • Everything Else – This category is one of the most complex due to the fact that there are over 250 different diagnosis it. These include pterygium syndromes, lethal conditions, and atypical AMC. Anything that is not Distal or Amyoplasia goes into the Everything else category.

Another way of classifying AMC that is helpful to researchers and doctors treating

AMC is ….

  • Arthrogryposis with mainly limb involvement
  • Arthrogryposis with limb involvement and involvement with some other body area(s)
  • Arthrogryposis with limb involvement and dysfunction of the central nervous system

 

Does AMC get better/is there a cure?

People with AMC look their worst when they are born. AMC is considered non-progressive which means joint contractures present at the time of birth, will not get worse. There is no cure for AMC but with proper treatment many children will grow up to live independent, full, active lives and indeed get better as time goes on. In fact, people with AMC many times have above average intelligence. They are doctors, dancers, motivational speakers, lawyers, architects, authors, artists, makeup artist, teachers, parents, social workers among other things. They are also notorious for their extraordinary abilities to adapt to the world around them. For example, someone who may have limited or no use of their arms and hands will use their feet, and/or their mouth to do everything their hands would have done for them. This can include driving, cooking, playing video games, putting on make up, changing a babies diaper, and even beautiful works of art!

How do you treat AMC ?

Treatment for AMC often includes: stretching, serial casting, range of motion exercises, physical therapy, occupational therapy, massage therapy, splinting, bracing and many times surgery.   See Types of therapies , Uppers  and Lowers.

What if I am pregnant with a baby with AMC?

Being told your un-born baby has AMC can be very scary. However you will now have time to connect to online support groups with other moms and dads of AMC babies. There you will find over whelming support and encouragement as well as recommendations for the various doctors your AMC baby will need. Being that AMC is rare many doctors are not familiar with it and some have never even heard of it. Having several months head start before your baby is born, to research and call around will be a big advantage. Dr. Judith Hall, one of the most knowledgeable geneticists on the subject of AMC recommends you talk to your obstetrician about the possibility of delivering the baby 2-3 weeks early, if the baby is healthy enough, and the lungs are fully developed. This will allow sooner treatment to the contractures. You may also want to talk with your doctor about delivering by C-section to reduce the risk of fractures, to which babies with AMC are more prone during the newborn period. Dr. Hall also recommends “in-utero therapy”.

  • Drink Coffee or Tea 3x a day
  • Take 10 deep breaths 3x a day
  • Keep Moving. Exercise

Take a 10 minute fast walks at least once a day.

It is VERY important to note this should ONLY BE DONE in the 3rd TRIMESTER and ONLY DONE if cleared by your obstetrician.

Is assistance available for my child with AMC?

Your child will most likely qualify for early intervention services in your state. Early intervention services include access to physical and occupational therapists and help in keeping your baby progressing in developmental milestones. Most states provide early interventions services free of charge. Your child may also qualify for financial medical assistance through state level waivers or Medicaid. Talk to a hospital social worker, they 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 on the programs and assistance that is available to you and your child in your area.

Can people with AMC have kids?

Men and woman with AMC can have children. They may face different challenges than a fully able bodied person, but many people with AMC that have children find smart and successful ways to get around their physical limitations.

Will my AMC child be able to live independently as an adult?

How AMC has impacted the body of the affected individual will greatly determine what kind of life they will have. Many people with AMC despite their physical limitations, will have a positive life experience and learn to live independently. Some people which AMC may need to live with assistance even in their adult life. It all depends on how severely one is affected.

 

Poll -Did you know your child had AMC before or after birth?

This has been a question in several Facebook groups.

Here is the break down out of 170 caregivers.

74- No

69 -Yes

23 -Knew about contractions , but no formal AMC diagnosis before birth

4- Adopted

Poll -Types of medication taken while pregnant?

There is no proof that a type of medicine caused AMC.  This is a question that comes up regularly in the Facebook groups.

Poll -Out of a 171 moms

60- Vitamins

27- Tylenol

23- Anti nausea medicine

16- Iron Tablets

10- Antibiotics

7- Progesterone

6- No medicines

4- Thyroid

4- Cold

3- Vaccine

2- Muscle relaxers

1- Benadryl

1-Fluoxetine

1- Tylenol PM

1-Calcium

1- Zoloft/Paxil

1-Epilepsy medication

1-Baby Aspirin

2- Heartburn medication

Where do I start?

You just found out your child has AMC and don’t know what to do next.

 

1- Find an early intervention program in your area.  The program provides early identification and screening of children with developmental delays and chronic health conditions.

Example for Georgia: http://dph.georgia.gov/Babies-Cant-Wait

2- Finding doctors- Check out Doctors and reach out to the AMC community online.

3- Events- AMCSI has an annual conference to meet other families and doctors.  Also, check events to see if there are any mini meetups close to you.

4- Find support online– There are AMC groups all over the world that can help with your journey.

References for questions

References

(The author would like to acknowledge Harold vanBosse MD for their tremendous amount of help and support with this article.)

What is Arthrogryposis Multiplex Congenita (AMC)? – https://en.wikipedia.org/wiki/Arthrogryposis Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke.

How does Amc develop?- Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke.

Are there different types of AMC?- https://www.youtube.com Introduction to Arthrogryposis Multiplex Congenita: Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke

How is the type of AMC determined? – Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke

How do you treat AMC? – Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke

What if I am pregnant with a baby with AMC? – Arthrogryposis A Text Atlas. By: Judith G Hall MD, Lynn T Staheli MD, Kenneth M Jaffe MD, Diane O Paholke

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