Thursday, January 31, 2013

Let's Get Technical

So what is arthrogryposis, anyway? Well technically, it is called arthrogryposis multiplex congenita (AMC for short). It is defined as a non-progressive, congenital disease referring to multiple joint contractures and muscle weakness. The most common form of which, as in Liam's case, is amyoplasia, a lack of muscular development and growth, showing deformity and contractures at most joints. As I posted in Liam's story, in layman's terms, it means his joints are abnormally stiff and lots of therapy and possibly numerous surgeries will be required to make them not so stiff.

The exact cause for arthrogryposis is largely unknown. There are a number of theories, but the doctors involved in Liam's treatment have not been able to match his case with any of them. My pregnancy was perfect as far as my doctor could tell and there have been no genetic instances of contractures in the past except for the occasional instance of the more common clubbed foot.

There is a theory that suggests that at about the 8th or 9th day of gestation, there is a crucial development phase in which the nerves fuse with the muscles in the fetus. And during this phase, the fetus should be mobile in the womb. If the fetus, for some reason, remains immobile, then the result could be arthrogryposis. This is the theory that we have heard in Liam's case, though no one is entirely certain. Whatever the cause may be, we have been and will continue to do everything we can for Liam to be fully ambulatory without the need or support of devices.

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