Help for Patients with Arthrogryposis
Straight Talk About Curved Joints

16-year-old Jennifer Weaver, an arthrogryosis patient at Shriners, exercises daily to improve muscle tone and body strength.

Don't offer to open a door or carry books or a lunch tray for Jennifer Weaver. She'd rather do it herself, thank you. Although she admires chivalry, Jennifer cherishes her hard-earned independence even more. Born with a rare and crippling condition called arthrogryposis, 16-year-old Jennifer has managed to overcome many of the physical limitations that are now a distant memory.

"I knew when she threw her crutches across the room at age 3 while yelling `I hate those things!' that she was a fighter," recalls Jennifer's mom Pam.

Today, Jennifer is manager of her high school drill team, a star soloist in the school choir and works out daily at the gym.

About the only physical challenge she encounters these days are stairs, which can be tricky to negotiate with leg braces. Often at school, Jennifer's football-playing buddies scoop her up, toss her over their shoulders and run up the stairs, while petite, 100-pound Jennifer yells in protest that she can do it herself.

What is arthrogryposis?
Jennifer is one of only 3,000 children born with arthrogryposis each year in this country. Arthrogryposis is not a single disease, but a broad "umbrella" term that encompasses about 150 individual conditions, all involving contractures or curvatures of the joints. Literally translated from its Greek roots, arthrogryposis means "curved joint."

Dr. Douglas Barnes, assistant chief of staff at Shriners Hospital for Children, treats a young patient with arthrogryposis by applying splints to the affected joints. The rare disease is recognized immediately after birth, with limbs twisted in a frozen position. Medical attention and intervention can bring dramatic improvement .

A joint contracture is akin to a joint being "frozen in place," and it all but eliminates a child's ability to move that particular part of the body, explains Dr. Douglas Barnes, assistant chief of staff at Shriners Hospital for Children in Houston. Dr. Barnes, a recognized expert in arthrogryposis, diagnosed Jennifer when she was 2 days old with arthrogryposis multiplex congenita, or amyoplasia, the most common form of arthrogryposis seen by orthopedic specialists.

Arthrogryposis is immediately recognizable at birth, Dr. Barnes says. Hands, wrists, knees, hips, elbows and shoulders are twisted out of shape, then frozen in position.

"Parents often are devastated by what they see in the delivery room, but they need to be assured that they are seeing the condition at its worst. Because arthrogryposis is non-progressive, the child's condition won't deteriorate, and will likely improve dramatically with proper medical attention," Dr. Barnes says.

Tensia Alaniz remembers when her son Matthew was born with arthrogryposis multiplex congenita 19 years ago.

"Immediately after giving birth, the delivery room was silent. No one spoke, and no one held my baby up for me to see. Finally, a nurse said `Tell her what she had - a boy or a girl.' The doctor looked stunned as he tried to tell me I had a boy. I kept asking over and over again, `What's wrong, what's wrong?' They told me they didn't know yet ... then they took my baby away."

Matthew's pediatrician summoned a doctor from Shriners Hospital for a consultation. The next day, Matthew was officially diagnosed with arthrogryposis. Because the condition is relatively rare, few health care providers have seen or treated it extensively, Dr. Barnes says.

"A child with multiple joint contractures at birth should be evaluated at one of the country's major treatment centers with pediatric orthopedists on staff," Dr. Barnes advises.

What causes arthrogryposis?
Children with arthrogryposis share a common prenatal history - all are unable to move sufficiently within the uterus prior to birth. While their joints are constrained in utero, extra protective fatty and fibrous tissue grows around the joints, fixing them in position. This increase in tissue around the joints replaces muscle, causing weakness and giving an appearance of "wasting." Lack of joint movement in the womb also prohibits the tendons that connect the joints from being stretched to their normal length. Short tendons make joint movement difficult.

Mothers of children with arthrogryposis often report that their babies were unusually still during gestation.

Peter DeLeonardis won grand prize for "Best Sports Car" in his Boy Scout troop's model car competition. Born with arthrogryposis, nine-year-old Peter has improved dramatically and enjoys camping, fishing and baseball.

Martha DeLeonardis remembers being anxious and having a sense of "foreboding" during her pregnancy with Peter, now 9 years old.

"Something was wrong. He wasn't moving and the doctors were concerned," she recalled.

Having lost two other children to a devastating genetic disease called Krabbe syndrome that causes the brain to shut down and die by age 1, Martha couldn't help but wonder if Peter was affected as well. Prenatal tests came back negative, but still, something was wrong. Only when Peter was born was the diagnosis of arthrogryposis clear.

"When I first saw him, his legs were bent upward behind his ears, his arms were twisted and turned, and his feet were pointing inward. Nothing was where it should be," she recalls.

Three days after birth, the severity of Peter's contractures required that he be placed in a cast from feet to hips. He remained that way until nine months of age.

"His first bath was at age 9 months. He squealed and splashed ... finally he was experiencing freedom for the first time," Martha says.

In addition to the long leg casts, Peter had three surgeries to correct his clubfeet that twisted inward, one to straighten his hand, and one to correct a hernia, a condition that sometimes accompanies arthrogryposis. All the while, he underwent extensive physical and occupational therapy to increase body strength and stretch joints. Today, he wears only ankle braces to keep his feet from turning inward, but by age 15 he will no longer need them. His hands have become so functional that he has even mastered chopsticks, which come in handy when eating Chinese food - his favorite.

Conditions leading to arthrogryposis
While children with arthrogryposis all share a common lack of prenatal movement, the reasons for their restricted movement vary.

Lack of joint movement in utero, known as fetal akinesia, occurs because one or more of the following conditions are present:

• Muscles fail to develop properly due to muscle disease (for example, congenital muscular dystrophy), maternal fever during pregnancy, or a viral infection which may damage cells that transmit nerve impulses to muscles.
  
  
• The uterus does not allow sufficient room for fetal movement, often due to lack of amniotic fluid or an abnormally shaped or positioned uterus.
  
  
• The central nervous system and spinal cord are malformed. In these cases, arthrogryposis usually is accompanied by a wide range of other conditions. Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.

By and large, arthrogryposis is not genetic. It occurs once in a family and never recurs. Thirty percent of cases, however, are genetic in origin, and families affected require genetic counseling.

How is the body affected?
The degree to which muscles and joints are affected by arthrogryposis varies widely.

In some cases, the condition may be severe, while in others few joints are affected and range of motion is nearly normal.

Of all children with amyoplasia, the most common form of arthrogryposis, 60 percent are affected in both arms and both legs, 25 percent are affected in the legs only, and 15 percent are affected in the arms only.

Parents of arthrogrypotic children tell a common story involving serious falls their children suffered, because the arms frequently are not strong enough to break a fall.

"When Peter entered third grade, his school finally stopped calling to say he fell and was injured. Before that, we had many bumps and bruises, many trips to the pediatrician," recalls Martha.

In its most common form, arthrogryposis causes hands, wrists, elbows, shoulders, hips, feet and knees to be contracted and frozen at birth. In the most severe cases, nearly every body joint may be involved, including the jaw and back. Frequently, the joint contractures are accompanied by muscle weakness which further limits movement. Joint contractures in amyoplasia are not painful, despite their sometimes alarming appearance.

While different children have different levels of involvement, the feet are affected almost 100 percent of the time, Dr. Barnes says.

"Most commonly these children have clubfoot, but any foot deformity may be seen," he explains. The feet are notoriously resistant to non-operative therapy, Dr. Barnes says. Fortunately, foot deformities in arthrogryposis can almost always be improved.

It is not uncommon for infants to suffer bone fractures during childbirth, whether vaginal or Caesarean, due to severe contractures, he adds.

To be continued in the September 15 issue.

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©2006 Texas Medical Center

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