arthrogryposis multiplex congenita

"What's wrong with your hands?"

"I have arthrogryposis multiplex congenita."

"And that is...?"

How many times have you had this conversation? Okay, probably never... but I have, hundreds of times! That's because I do in fact have arthrogryposis multiplex congenita, commonly shortened to arthrogryposis or, even more commonly, AMC.

The easiest way to understand the technical definition of AMC is to look at each word individually. Arthrogryposis (are-throw-gripe-OH-sis) means simply, "joint contracture". A contracture is any tightening or deformity of a joint. The most well known type of contracture is a club foot... BUT, one club foot (or even two) does not equal AMC. The next word, multiplex, rather obviously means "multiple". In AMC, contractures occur in at least two different joints, for example a foot and an elbow, but not just two feet. So, what if your grandfather had a stroke and now he has a flexed elbow and a tight shoulder... does he have AMC? Nope, the final word, congenita, means the contractures were present at birth.

What causes it? Is it hereditary? Is there a cure? Are you dying?

There are no stupid questions. These are all valid questions but they're based on one common misconception. AMC is more like a symptom than a disease. More well known disabilities, such as cerebral palsy, multiple sclerosis, muscular dystrophy and spina bifida, have specific causes, pathologies, symptoms or patterns of progression. AMC can be caused by any number of things; sometimes it is isolated, sometimes it is secondary to a more specific disease. Anything that restricts or prevents normal movement prenatally can inhibit joint development and cause a contracture... fetal paralysis due to some infection or neuromuscular disease, lack of amniotic fluid, even overcrowding (there are several cases of AMC occurring in one or more babies in a multiple birth). There are genetic abnormalities which result in AMC, but they are rare - the majority of people with AMC did not inherit it. The only way to treat AMC is joint by joint, through physical therapy, splinting or surgery. Sometimes surgery can almost completely correct a contracture. Other times it may help the joint to look more normal, but could possibly take away functionality. AMC is not fatal, since it is nothing more than joint contractures, but it can be secondary to a progressive or fatal disease.

Enough scientific babble, you want to know what it really means, right? Okay, but you have to keep some of the technical stuff in mind... specifically, that AMC is a symptom, not a disease.

Take for example, a cough. A cough can be a symptom of any number of things... the flu, a cold, pneumonia, cancer, emphysema, etc. Or, you might cough spontaneously due to some kind of irritant... fumes, allergens, a dry throat, or a food or drink you've choked on. Like the cough, AMC can be a symptom of a congenital disease, or the end result of a prenatal "irritant" such as lack of adequate space in the womb. There are also lots of different kinds of coughs... a dry cough, a mucous cough, a light and only mildly annoying cough, or a cough so deep it knocks the wind out of you. These are all very different beasts, and have very different effects on you, yet still are all called a cough. The same is true for AMC. Some may have contractures so mild you don't even notice them; others may require multiple surgeries just to achieve a sitting position.

Varying degrees of contracture all fall under the umbrella label of arthrogryposis multiplex congenita, so long as they are multiple and congenital.

More information is available from Avenues, a national support group for AMC.