Arthrogryposis is a group of symptoms characterized by stiff or immobile joints. The condition is usually obvious at birth and requires early treatments such as physical therapy and, less commonly, surgery.
Having a child with a rare disease can be stressful and lonely. If your child recently received a diagnosis of arthrogryposis, a set of symptoms characterized by stiff or immobile joints, you likely have many questions about what the path forward looks like. What caused your child’s arthrogryposis? What treatments are available? And how will arthrogryposis affect your child’s future?
Read on to learn more about arthrogryposis: what it is, what its main symptoms are, how it’s diagnosed, how it’s treated, and what the outlook is for people who live with arthrogryposis.
Arthrogryposis, or arthrogryposis multiplex congenita, refers to a group of symptoms where there’s stiffness in the joints and where joints may be fixed in certain positions such as bent or straightened.
Arthrogryposis isn’t an official diagnosis but rather a description of symptoms that may be attributed to various causes or conditions. Usually, a child is said to have symptoms of arthrogryposis when more than two joints are affected at birth.
Arthrogryposis is a congenital disorder. It’s usually noted at birth, although it may sometimes be observed during pregnancy. Arthrogryposis is rare; it’s seen in about
Symptoms of arthrogryposis vary widely from one child to another and can be mild, moderate, or severe. More than one joint is affected, and the most common areas are the joints in the legs and arms. Other joints may be affected as well such as:
- fingers and toes
- joints in the back
The most typical symptom of arthrogryposis is stiffness and decreased mobility at the joint. Many children have no movement at the joint at all, and their limbs are stuck in a bent or straight position. Arthrogryposis affects the muscles as well, leading to underdeveloped muscles.
Arthrogryposis is attributable to several different causes, and in some cases, multiple causes are possible at once.
One main factor is decreased fetal movement in the uterus, which may stem from any of the following:
- neurological problems
- muscle issues
- maternal illness during pregnancy
- connective tissue disorders
- decreased space for adequate movement in the uterus
When a fetus can’t move properly during pregnancy, joints may not develop properly.
There may also be genetic factors at play when it comes to the development of arthrogryposis. Several different genetic disorders may be responsible for the emergence of arthrogryposis, including:
Arthrogryposis can affect anyone, but certain individuals may be more likely to have it. Arthrogryposis is equally common in those assigned male at birth and those assigned female at birth. It’s more likely to occur in people of Asian, European, and African descent.
Having certain genetic and chromosomal factors may also increase the risk of arthrogryposis.
Treatment plans for arthrogryposis are individualized and vary from one person to another. Usually, a combination of physical therapy, occupational therapy, and sometimes surgery is required. Either way, the earlier treatment is started, the more favorable the outcome.
Most children begin physical therapy as infants. Physical therapy may improve joint mobility and lower the chances that muscles will show signs of atrophy, which is the loss or thinning of muscle tissue. Some children will be given splints that are worn on the knees and the feet to promote typical muscle movement. Sometimes serial casting of immobile joints is used.
Some children require surgery for arthrogryposis. Surgeries may improve joint positioning and allow the joints to become more mobile. Rarely, a tendon transfer is performed in an effort to increase muscle and joint function.
It’s important to understand that arthrogryposis isn’t a progressive disease: it doesn’t get worse over time. In fact, with physical therapy, most children are able to improve the functioning of their joints.
Most people receive an arthrogryposis diagnosis at birth or soon after birth. Some receive a diagnosis in utero via ultrasound. A diagnosis is usually made after observing physical symptoms and taking a thorough medical history.
After arthrogryposis is diagnosed, various tests may be performed to understand what’s causing arthrogryposis. These tests may include:
- nerve conduction
- muscle biopsy
- whole genome sequencing
When it comes to treating arthrogryposis, a multidisciplinary approach is best, meaning that having a team of diverse clinicians is often necessary. Some of the people who may work with you in treating your child’s condition include:
- physical therapists
- occupational therapists
Does arthrogryposis lower life expectancy?
No. People living with arthrogryposis have
How do people with arthrogryposis fare emotionally?
Support is key when it comes to managing the emotional effects of arthrogryposis. A
Where can I get support for arthrogryposis?
Consider reaching out to Arthrogryposis Multiplex Congenita Support, Inc. The organization offers events, support, and grants to support medical expenses.
Living with a rare condition such as arthrogryposis, or caring for a child who has it, can be incredibly difficult. While arthrogryposis can be challenging, there are treatment options, and most children with arthrogryposis grow up to live full and healthy lives.
Stay in touch with healthcare professionals as you navigate arthrogryposis, and never hesitate to reach out to them with questions.