Also known as: Arthrogryposis Multiplex Congenita
Arthrogryposis is not a diagnosis but a descriptive term, which is used to describe a baby born with joint contractures (where joints are fixed in a bent or straightened position) affecting at least two different areas of the body. It is believed that these contractures may result from one of several processes that cause the unborn baby’s limbs not to move properly at the time the joints are being formed. These processes fall into four main categories: problems with the nerve supply, the muscles, the connective or supporting tissues and external factors such as the blood supply to the baby or the shape of the womb. Approximately 1 in 5,000 babies are affected.
Arthrogryposis includes over one hundred and fifty different conditions. These include diagnoses such as multiple pterygium syndrome, Larsen syndrome and Freeman Sheldon syndrome. Some are relatively mild whilst others involve problems with other organs, such as the brain, nervous system or muscles.
Medical text written October 1999 by TAG (The Arthrogrypsosis Group). Approved October 1999 by Dr C Pollitt, Specialist Registrar in Clinical Genetics, School of Biochemistry and Genetics, University of Newcastle, Newcastle upon Tyne, UK. Last updated September 2010 by Mr Nigel Kiely, Consultant Children’s and Adult Orthopaedic Surgeon, Robert Jones and Agnes Hunt Orthopaedic Hospital, Shropshire, UK.
The most common type of arthrogryposis is amyoplasia, which occurs as a result of lack of muscle formation. This has a recognisable pattern of joint involvement and other features. Although arthrogryposis is present at birth, it is not progressive (meaning that it will not get worse over time) and it is almost certainly not inherited so that the risk of other children in the family being affected is very low.
Early diagnosis of arthrogryposis is important and referral to a geneticist is recommended to see if the pattern of problems can be recognised and a specific diagnosis made.
The care of people with arthrogryposis is essentially symptomatic (designed to treat the symptoms of the disease). However, early diagnosis is important so that appropriate therapy can be planned. Arthrogryposis should be managed by a multi-disciplinary team in a specialist centre as it is a rare condition. Treatment may include early physiotherapy (including passive stretching exercises), splinting and surgery to improve the mobility of the joint.
All types of inheritance may be implicated, including chromosomal problems. The family tree may provide clues to how the condition is inherited or passed down through the family. Families should seek genetic counselling if there is an occurrence of arthrogryposis in the family.
If the specific genetic change that has caused the problems is known, then it may be possible to look for this in subsequent pregnancies by chorionic villus sampling (CVS) or amniocentesis. This is likely to be possible in only a very small minority of cases.
Ultrasound scanning later in the pregnancy may detect contractures or a decrease in fetal movements, but it may not be possible to be sure of how severely the baby is likely to be affected.
The Arthrogryposis Group (TAG)
TAG is a Registered Charity in England and Wales no. 1164158. It provides imformation and support to people born with Arthrogryposis and their families. They hold get togethers around the UK for all ages where members get together, chat and support each other in their day to day activities. TAG have also started up dedicated TAG clinics at numerous hospitals around the UK for children born with Arthrogryposis.
Group details last reviewed December 2020 .