Arthrogryposis Multiplex Congenita at a Glance
- Arthrogryposis Multiplex Congenita (AMC) is the condition’s full name, indicating that the joint contractures affect multiple areas of the body and are present at birth. (AMCSupport.org)
- Club foot is the most common isolated congenital joint contracture, but doesn’t warrant an AMC diagnosis unless joints in at least one other part of the body are also affected. (NORD)
- Contractures in the lower extremities are more common than ones in the upper extremities. (NORD)
- Amyoplasia is the most common form of arthrogryposis, accounting for a third of all cases. It’s sometimes known as “classic arthrogryposis” and is defined as the presence of dense, fibrous tissue and fat where muscle would normally be present. (TAG; U.S. National Library of Medicine)
- While 125 genes have been identified as being responsible for arthrogryposis, most cases happen “for no apparent reason.” (NORD)
- Judith Hall, M.D., Emerita Professor, Departments of Pediatrics & Medical Genetics, University of British Columbia, is recognized in the AMC community as the pre-eminent expert on arthrogryposis. Though now retired, Hall says in an online biography that she plans to continue to study arthrogryposis. (CFRI)
- Arthrogryposis Awareness Day is June 30.
- AMCSupport.org’s 9th annual conference is July 2-5 in Minneapolis.
- British comedian Liz Carr, who has appeared in multiple BBC series, has arthrogryposis; catch her clips on YouTube.com (warning: language). American actress, singer and Ms. Wheelchair winner Jennifer Kumiyama has arthrogryposis — and inspired this MM story.
— Sources: AMCSupport.org; Child & Family Research Institute (CFRI); National Organization for Rare Disorders (NORD); Mark E. Smith; The Arthrogryposis Group (TAG); U.S. National Library of Medicine
This article originally appeared in the July 2014 issue of Mobility Management.