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Friday, Jan 09, 2009 | 02:54 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
Arthrogryposis
Arthrogryposis multiplex congenita
Tuesday, 12 July 2005
Last Updated Tuesday, 12 July 2005
What
Arthrogryposis is a rare, often inherited, condition that is characterized by the presence of multiple joint contractures that result in limitations in movement throughout the entire body. These joint problems, present at birth, are usually a result of decreased movement of the baby during pregnancy. There are many causes of this disorder and it can result from nerve, muscle, connective tissue, or mechanical problems.Who
The estimated frequency of Arthrogryposis is about 1 in 3,000 live births. This disorder is found in all ethnic groups and in boys and girls equally. There are many different forms of this disorder. In one form, the X-linked recessive form, males are primarily affected. This is because males have only one copy of the X chromosome, inherited from their mother. If the abnormal X chromosome is inherited from the “carrier” mother, the child will have symptoms of the condition.Signs and Symptoms
Children with Arthrogryposis may have the following signs and symptoms:
- contractures o Multiple contractures of the distant joints (ankles, knees, wrists) than the more centrally located joints (shoulder, elbow, hip). o Joint dislocations – most commonly the hips. o Small muscles
- Deformities o Face - flat bridge of the nose, small jaw, decreased range of motion of the jaw o Limbs – shortened, webbed, absent knee cap. o Other – abnormal curve of the spine (scoliosis), hernias.
- Malformations o Central nervous system – leading to seizures, mental retardation, abnormal shape of skull, eyes, and palate. o Respiratory – narrowing of the airway, weak diaphragm muscles. o Limb – fused fingers and toes. o Other – heart, kidney, and muscle abnormalities.
- Connective Tissue Abnormalities o Skin webs and dimples over affected joints. o Abnormal skin feeling – soft, thick, or elastic. o Nail changes.
Possible Causes
Arthrogryposis is a physical result of decreased movement of the baby during pregnancy that can be caused by several conditions. These different conditions fall into the broad categories of environmental agents, genetic defects, chromosomal abnormalities, and other syndromes.Diagnosis
Making the diagnosis of Arthrogryposis is usual done by finding the above described characteristic physical findings, taking a complete family and pregnancy history, and appreciation of the other associated clinical features. Identifying the specific muscle, nerve, or bony disorder responsible for arthrogryposis can be performed with blood tests and tissue biopsies. Imaging studies such as x-rays are used to evaluate bony abnormalities and scoliosis.Treatment
The approach to treatment of arthrogryposis involves a multi-disciplinary effort with physical therapists, orthopedic surgeon, plastic surgeon, and many others. Early physical therapy to stretch areas of contractures is critical to preventing muscle wasting and to preserve mobility. Bracing or splinting is also important to maximize range of motion. Surgery is often needed to correct extreme deformities in the feet, knees, hips, and even arms. There is no known cure for arthrogryposis but with early intervention, the functionality needed to accomplish activities of daily living can be preserved.Prognosis
The prognosis for children with Arthrogryposis is highly variable. Most children with body impairments that are not life threatening are expected to mature and become adults with a normal life expectancy. Some children, however, may require a higher level of care throughout life due to more severe malformations. Children with limb and central nervous system involvement are frequently hospitalized in the first year of life and those with scoliosis or abnormal curvature of the spine may have chronic breathing problems.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
The Arthrogryposis Group
Uk based website, supportive group for families, lots of useful information, allows affected individuals to network.
Avenues
Support group for individuals, families, and medical professionals related to Arthrogryposis.
National Organization for Rare Disorders
National website dedicated to rare diseases.
Family Village Library
Good website to start at, lots of useful sublinks.
Contact a Family
Useful website for seeking support and contact information.
March of Dimes Birth Defects Foundation
Nonprofit organization focused on raising awareness and uniting families.