If your child has one of the medical conditions that cause arthrogryposis, they need the highest level of care to achieve the best possible outcome.
At Phoenix Children’s Hospital, our physicians are specially trained to care for children with these conditions. You and your child will see specialists such as:
- Orthopedic surgeons
- Plastic surgeons
We will individualize each child’s care plan, from diagnosing the specific cause of the symptoms to choosing the best treatments for that syndrome. Whether your child’s symptoms are mild or severe, we are committed to working with your family to provide state-of-the-art care.
What Is Arthrogryposis?
Arthrogryposis, which is also called arthrogryposis multiplex congenita (AMC), is not a specific diagnosis. Instead, it describes contractures (shortening and hardening of muscles, tendons or other tissue) of multiple joints that can be caused by a variety of disorders. A contracture results in decreased range of motion in a joint so that it can’t by fully bent or extended.
Conditions that lead to arthrogryposis often begin when the unborn child doesn’t move enough inside the mother’s uterus. This can happen for many reasons, such as if the level of amniotic fluid is low, if there are problems with the baby’s muscles or nervous system and for other reasons.
With arthrogryposis, these contractures are present at birth and involve multiple joints. There are more than 300 conditions that can result in arthrogryposis, and they fall into the following general categories:
- Disorders that mainly involve the limbs. The most common type of arthrogryposis is amyoplasia, which accounts for approximately one-third of all cases. In most children with this condition, all four of their limbs are involved. Amyoplasia occurs sporadically, which means it is not inherited. Another condition in this category is distal arthrogryposis, in which the hands and feet are the most affected. Distal arthrogryposis is more likely to be hereditary.
- Disorders that involve the limbs as well as problems with other body areas. There are many conditions in this category, including disorders called multiple pterygium syndromes. These involve web-like membranes that form across a joint, such as between the shoulder and neck or behind the knee. Other conditions involve facial abnormalities, hernias and poor growth. Some types of achondroplasia (dwarfism) also have contractures.
- Disorders with limb involvement and central nervous system dysfunction. This includes conditions such as COFS syndrome, in which the child is born with a small head, structural abnormalities of the brain, eye problems, joint contractures and other issues.
What Are the Symptoms of Arthrogryposis?
Arthrogryposis can be mild or severe, and symptoms vary greatly. They typically don’t get worse over time.
In general, symptoms can include:
- Difficulty moving the arms and legs
- Joints that are fixed in one position
- Weak or missing muscles
- Curvature of the spine
- Webbing or other differences in the skin around the joints
How Is Arthrogryposis Diagnosed?
In some cases, arthrogryposis is diagnosed during a routine prenatal ultrasound. When this happens, your doctor may refer you to the Arizona Fetal Care Network. This program was created at Phoenix Children’s to provide prenatal counseling to families at risk for having a child with severe health problems. Providers there will talk with you about what the ultrasound shows and what it may mean for your child.
If your doctor sees signs of arthrogryposis after your child is born, a multidisciplinary team of specialists will do a careful examination to establish a diagnosis and create a treatment plan. They also may perform some of the following tests to understand what underlying condition is causing your child’s symptoms.
- X-ray or computed tomography (CT) scan to examine the bones and joints
- Magnetic resonance imaging (MRI) scan to examine the muscles or central nervous system
- Ultrasound to check for involvement of other organs or the central nervous system
- Muscle biopsy to check muscle fibers
- Electromyogram (EMG) to test how fast nerve signals travel
Your doctor will also ask questions about your family history, such as if you have any relatives with contractures, even if they are mild. This can help establish whether your child’s condition is genetic. Some genetic conditions occur even with no family history of similar symptoms.
Your doctor may also ask:
- If you have had any miscarriages or stillbirths
- How active your child was before birth
- If you had any illnesses during your pregnancy
- If you had any leaking of your amniotic fluid during your pregnancy
The geneticist may recommend that your child have genetic testing done. There are different types of genetic testing, and sometimes more than one test is recommended.
How Is Arthrogryposis Treated?
Treatment for arthrogryposis should be started as soon as possible. In some cases, the newborn may need immediate care in our Newborn Intensive Care Unit (NICU). Our NICU provides specialized care for babies born with serious health conditions.
Early treatment for arthrogryposis is often very successful, and most children with this condition live satisfying and productive lives. Depending on the extent and type of your child’s syndrome, they may have one or more of these treatments:
- Physical therapy (PT). This includes exercises, stretches and other movements to increase your child’s muscle strength and range of motion. PT can also help with gross motor skills such as learning how to roll, crawl, sit, stand, walk, use crutches and other ways of being mobile.
- Occupational therapy (OT). Occupational therapists help children learn ways to take care of themselves. If your child needs a wheelchair or walker, our OT can help them learn how to use it. OTs also help children with fine motor skills such as writing and using utensils to eat.
- Splinting and casting. These are used to hold a joint in place, to stretch the tissues in a joint or to line up bones so the child can move more easily. Splints can be changed as your child’s range of motion improves. In some cases, splints are worn only at night. Your child may be referred to an orthotist who will make these splints.
- Surgery. When other treatments have not worked, or when the child has reached optimal improvement with other therapies, your child’s specialist may recommend a surgical procedure. The surgical team at Phoenix Children’s has the skills and experience to provide safe surgeries with excellent results. For children with arthrogryposis, the team usually consists of orthopedic and plastic surgery teams working together.
Surgery for arthrogryposis can include procedures to:
- Shorten, lengthen or change the position of a bone to improve how joints line up.
- Release a joint capsule if it is restricting movement.
- Release or lengthen tendons or muscles.
- Transfer tendons or muscles to help improve function
- Correct clubfoot, hip dysplasia or scoliosis related to arthrogryposis.
If your child’s arthrogryposis includes severe nervous system involvement, the specialists in our Neuromuscular Clinic can provide the necessary care for the best outcome.
What to Expect at Phoenix Children’s Hospital
Whether your child is born at Phoenix Children’s Hospital or comes here from another center, we’ll provide every service they may need to optimize and achieve their best possible functional outcome. This will include:
- Expert evaluation and diagnosis with a team of specialists
- A complete explanation of your child’s condition and treatments, in words that you can understand
- Convenient appointments with each specialist your child needs
- A comprehensive treatment program that is personalized for your child’s specific needs
- Ongoing and straightforward updates on your child’s progress
- Consideration of your child’s social and psychological needs as they grow older
- Counseling to help your child and your family cope well with this condition
At Phoenix Children’s, our goal is to help each child with arthrogryposis reach their full potential. We are here for your child and your family with the best available treatments and the support you need.
Our nationally recognized physicians are dedicated to focusing on your child's unique needs in the following specialties: