We’re going to discuss arthrogryposis today. “Arthrogryposis” is a word that even many physicians don’t know. It happens to be a catch-all term without one reason as to why people get joint contractures from birth. The joints get all … they can get deformed, patients don’t move their hands or their feet or their knees or their hips. There’s many different terms for arthrogryposis, amyoplasia congenita is one term for it (AMC) or amyoplasia is another term for arthrogryposis.
If you took 1000 people with arthrogryposis, there may be 1000 reasons for having it. Some are genetic, some are viral, when they were in utero, in the belly, or in gestation, and therefore something happened that caused it. The first goal when you see a person with arthrogryposis or a child, in my case. I see young children with arthrogryposis, is to try to figure out which category it is. Understand the reasons with MRI, with the use of genetics form NYU (which is what we do), with studies and evaluations, we often can understand the reason why the person has this arthrogryposis, these joint contractures, these joint limitations.
The next step is to treat this and oftentimes in young childhood we treat this non-surgically. Both casting for club feet, which is when the foot is turned in, or for knees that don’t extend or bend, we can often just do casting. However, the problem is, arthrogryposis affects multiple joints, hips, knees, ankles, and spines, and hands, and elbows, and shoulders. Basically it affects joints in a very variable way. You can have one person who has arthrogryposis and you can barely tell, they walk fine, they almost function perfectly, and another person who is wheelchair bound with no function. That’s a spectrum of disease in that there’s some very severe, some very mild. Some genetic, like Escobar syndrome, which have pterygium, which means they have webbing, and some where they just have one extremity involvement, or maybe just the knees are involved, or just the feet are involved. I think that that’s the first step. We diagnose what the reason is, and then we treat non-surgically.
There are times, and that has certainly moved in advancement, we can do surgery for arthrogryposis during childhood to enable people who initially could not walk to walk. I’ve seen this in children who would present to me from the age of newborn, almost folded in half, to a child who presented to me at 12 years old and somewhere in between. Eventually, with surgery, often combined with plastic surgery (in our case I use NYU plastic surgeons), and basically we as a joint team with physical therapists, plastic surgeons, myself, and occupational therapists, will often achieve great function in children with arthrogryposis.
I don’t think there’s ever a reason to give up, but I think we need to have goals. We can’t just operate – whether it’s internal fixation, external fixation, soft tissue releases, minimally invasive, just casting – without goals. I think we need goals but understand that the goals may change. Oftentimes the worst time you see a child with arthrogryposis is at birth, when everything seems hopeless. Gradually they can get stronger, and then all of a sudden we become hopeful that we can really achieve a very functional, good outcome.
What I ask parents is, don’t give up. Don’t be scared by arthrogryposis. It’s a wide variety of disease. The kids can get better, and we often can achieve great function.
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David S. Feldman, MD is Chief of Pediatric Orthopedic Surgery and a professor of orthopedic surgery & pediatrics at NYU Langone Medical Center / NYU Hospital for Joint Diseases, specializing in the care of children with complex scoliosis, arthrogryposis, hip dysplasia, Legg-Calve-Perthes disease, and lower limb deformities.
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