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Annihilating Arthrogryposis

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Vol. 15 •Issue 2 • Page 43
Annihilating Arthrogryposis

Role of PT is crucial against this childhood condition

All new parents wonder when their children will learn to crawl, walk and even run on their own. For parents of children with arthrogryposis, however, the question is a little more complicated. Walking and independent movement in general becomes a goal for them, rather than just a milestone in childhood.

Arthrogryposis multiplex congenita (typically referred to as arthrogryposis, or AMC) is a term describing the presence of multiple joint contractures at birth. The condition develops during the first trimester of pregnancy due to any number of conditions that can restrict joint movement.

While not curable, this rare condition (occurring in approximately one in 3,000 births) is very treatable with an appropriate regimen of physical therapy. PT has proven highly beneficial in improving strength, function and range of motion in patients with arthrogryposis.

Causes and Symptoms

As previously stated, arthrogryposis results from limited joint mobility before birth. But what restricts joint mobility? Research suggests four possible causes for joint limitation:

• Improper muscle development or atrophy. While in most cases the cause for atrophy cannot be determined, suspected causes include congenital muscular dystrophies, fever during pregnancy and viruses that affect nerve cells.

• Insufficient room for movement in the uterus. Abnormal uterus shape or a lack of amniotic fluid may also contribute to this cause.

• Malformation of the central nervous system and spinal cord. Along with arthrogryposis, this particular cause is typically a precursor to many other conditions.

• Abnormal development of tendons, bones and joints. For example, a tendon may not be connected to the joint in the proper place.

"It's similar to polio in that it affects the interior of the spinal cord," said Reenee Donohoe, PT, PCS, at Alfred I. DuPont Hospital for Children in Wilmington, DE. "It results in contractures and muscle weakness."

Donohoe explained that with arthrogryposis, contrasting muscle groups have one muscle which is dominant, and attempts to pull the weaker muscle into its own position. For example, if the quadriceps are affected, the strength of the hamstrings will cause the child to be born with knee flexion contractures.

Arthrogryposis itself is not hereditary. However, it can be a symptom of other conditions at birth that are hereditary, so overall there is a greater likelihood of offspring of patients with AMC developing the condition.

The most common form of the condition affects the hands, wrists, shoulders, elbows, hips, knees and feet—the body's most essential joints. Milder cases affect fewer joints and to a lesser degree, while extreme cases may affect nearly every joint in the body, including the jaw and back.

In some cases, the condition can be detected on ultrasounds before the child is born. Donohoe estimates that in 10 percent to 15 percent of cases, parents know of their child's condition before their child is born.

Early Treatment

Treatment for arthrogryposis can begin immediately after birth. Donohoe provided an outline for treatment.

"The initial focus is on family education—teaching them how to position and hold the child. It's also important to concentrate on stretching and begin splinting early. Most all children need foot splints, as well as knee, wrist and elbow splints."

Knee splints vary depending on whether the child struggles with flexion or extension. Since the majority of children with arthrogryposis do not have the strength to crawl on their hands and knees, many crawl commando style or scoot on their backs. "Generally, they're able to get to where they want to be," said Donohoe.

Children begin a standing program around the age of six months, working on standing for 20 minutes to one hour per day. It is around this time that doctors and therapists decide to have clubfoot deformities corrected—"almost every child with arthrogryposis has some sort of foot involvement," Donohoe clarified. Following the procedure, children are casted for about eight weeks, then fitted with large braces to assist in their walking—at which time the teaching process begins anew.

From this time into early childhood, the focus of physical therapy is on working with both the child and the family to maximize each child's abilities. Typically, the goal is to have a child walking solidly between the ages of 3 and 5.

"From the time I first see an infant, my goal is to determine, 'What do I need to do to get this child to walk?'" said Donohoe.

Since lower extremity contractures cause these children to walk at abnormal angles, physical therapists must also concentrate on correct posture and balance. Despite the use of braces, most children's ankles do not line up to keep their feet flat on the floor. "Due to these contractures, if you can't get their feet flat on the floor, they'll never be balanced properly," said Donohoe.

Therefore, heel wedges are placed on the child's shoes to keep their legs straight. "It's important to look at these kids from a biomechanical standpoint," she continued. PTs must "bring the floor to the child."

Once children reach school age, the focus turns more toward occupational therapy–learning activities of daily living, and assessment of the scholastic environment. "At this point, handwriting and keyboarding become the focus," said Donohoe. "We don't see them in the PT clinic as often."

Upper/Lower Extremity Contractures

Patients with total body involvement have even been known to present with respiratory complications as a symptom of arthrogryposis. However, she has noticed in the past few years that some of these children with total involvement have gained strength as they get older. "It's very remarkable—not something we expected," she admitted.

Most children are predominantly involved, however, in the upper or lower extremities. "I think that upper extremity involvement is the more devastating," offered Donohoe, "because it limits what you can do in daily activities. It makes combing your hair, bathing and dressing very difficult."

By comparison, children with lower extremity involvement only tend to have an improved prognosis. Aside from a high tendency toward spine curvature in adulthood, these children are able to walk with braces and an assistive device with little difficulty.

However, children with involvement in all four extremities are the most challenging to treat, as Donohoe explained. "When you have arms in an improper position with limited strength, combined with limited leg strength and a severe need for bracing to walk, it really limits what assistive device can be used for ambulation," she said. "Our rule of thumb is that if you have gluteal strength, you need bracing above the knee, and for those with quadriceps strength, we do bracing below the knee."

Outlook for Adulthood

The bright side is the extremely positive long-term outlook for patients with arthrogryposis. They enjoy a normal life expectancy, are of normal intelligence, and are employable. "It's very interesting to see what rich lives these people have—they have families, hold jobs—they're very happy," Donohoe said.

Needless to say, jobs that allow the individual to sit are preferable. However, some patients have taken on jobs such as teaching that require standing for long periods of time. Donohoe specifically mentioned one patient who is a prominent Washington, DC lawyer.

Many patients are also highly artistic. "It's amazing how many patients tell us that they draw or paint—with either their hands or feet," said Donohoe.

As far as problems in adulthood, many patients experience weakness as they grow older. Similar to post-polio syndrome, they may re-acquire a need for assistive devices as their age increases. Swallowing and speech are also common problems for patients later in life.

But for each potential complication, another opportunity seems to open for patients. Adaptive driving has become popular recently. "We look at seating and the hand controls they may need," Donohoe said. "We refer them to rehab centers with driving schools to provide whatever is necessary in the process."

As research improves and more opportunities become available, physical therapists hope to steer their patients with arthrogryposis toward a successful future.

Rob Senior is on staff at ADVANCE and can be reached at rsenior@merion.com




     

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