How is to be 1/3000 newborn: Arthrogryposis multiplex congenita

I saw her walking with difficulty, moving left to right. A young girl on her early twenties with a clever face. She was a medical student, educated and empatic. After three days I felt confident to ask her: what is your problem? “Arthrogryposis bilateral, I have some surgery in my feet, but I,m fine now and it is not progressive”. After many years practising medicine I have to confess  to her: “Sorry, I knew nothing about this syndrome”

Arthrogryposis multiplex congenita (AMC),  consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. The etiology is not clear but there is an association with a reduction of fetal movement intrauterus. Tendons and muscles are not well developed and  connective tissue deposition is observed around joints. “Gryposis” is derived from the Greek meaning “curved or hooked joints”.The primary diagnosis is made when a lack of mobility and an abnormal position is noted in routine ultrasound scanning.

Usually orthopedic surgery is necessary to give stability to the joints.

 Article. Diagnosing Arthrogryposis Multiplex Congenita: A Review .Kalampokas E, et al.Obstetrics and Gynecology 2012;

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3461621/pdf/ISRN.OBGYN2012-264918.pdf