My approach to Arthrogryposis has evolved and changed over the past five years. After treating the stiff jointed children and adults with Amyoplasia and related diseases for over 20 years, I now primarily focus on increasing the range of motion of the involved joints and thereby improving function. This approach necessitates the treatment of the entire lower extremity as one unit, hip, knee, ankle and foot, and not performing any procedures that decrease range of motion, such as external fixators. Also, recognizing and treating the spine when involved so as not to interfere with function.
Upper extremities are first loosened and then muscles that are not essential, are transferred, enabling the child or adult to flex the elbow and bring the hand to their mouth, write or work a keyboard and perform personal hygiene.
This approach also requires me to treat patients with diseases that may look like Amyoplasia, such as Larsen’s Disease, Escobar Syndrome and RYR1 mutations uniquely not grouped together with Amyoplasia. It also makes age and timing of interventions such as casting and surgeries varied with the differing diagnoses and presenting symptoms.
Lastly, this method requires the expertise of several different types of healthcare professionals. Physical therapists, occupational therapists and child life specialists all play a major role in the outcome for the patient. In many places this is simply not available or not available enough. At the Paley Institute, we have all of this integrated into our program with additional patient care coordinators helping to navigate all the logistical issues in the uprooting of families for care. There is even a residence (Quantum House) on the campus of the hospital, that many families can reside in. In addition to long term accomodations, the families find comfort and support from other patients who are also staying there during their course of treatment.
Given that the condition is relatively rare, few surgeons and therapists are experienced enough to treat this disease effectively. Arthrogryposis requires very complex treatment and should only be undertaken by physicians, surgeons, and allied health professionals who are not only familiar with the disease but also have a high level of expertise in treating arthrogrypotic patients.
I believe that if a child is to have surgery, there must be an expected outcome that can change the child’s life. To achieve the best functional outcomes, I take into account the underlying muscle strength of the patient, outline realistic goals, assess the potential benefits of treatment, and partner with an exceptional team of experienced medical professionals to provide treatment. This ensures that children do not undergo multiple painful surgeries that make very little change in their condition.
Over the past four years, we, at the Paley Institute, have made great strides in treating the hip, knee and foot in patients with AMC. Often treated at the same sitting with the help of physical therapy, I can achieve hips and knees with increased range of motion and flexibility, without the use of external fixation and without causing increasing stiffness. Having a leg that is straight but stiff allows the child to walk if before they could not. If the knees cannot bend, as the child grows it is difficult to sit in classrooms, cars, airplanes, theaters, work desks, etc. The goal is to increase the arc of motion, not lessen it in an already stiff jointed disease. Specifically, for example, in the case of a fixed flexed knee, it is treated by loosening the joint capsule and all of the muscles that attach behind the knee. The nerves that cross the knee, such as the sciatic and peroneal nerves, are also loosened from their attachments. The femur bone near the hip is often shortened and rotated in position. All of this allows the knee to fully straighten and maintain a good deal of bending.
Elbows can be loosened and muscles transferred to allow for active elbow flexion. While in the United States the triceps is often the muscle used for this transfer, the Latissimus Dorsi, if present, is a muscle that is much stronger and not missed nearly as much. Transfer of this muscle allows the person to eat independently without having to bend to the table or do twisting maneuvers to lift a utensil to their mouth.
Wrists can be brought up from the flexed position if this allows the person to be more functional. In addition, thumbs can be brought out of the palm and fingers separated. All of this is done with a combination of bony and soft tissue surgery.
Patients with AMC may develop scoliosis, a twisting and curving of the spine and kyphosis, bending forward of the spine. These must be treated very carefully in AMC patients. First, one does not want to lose the ability to sit or stand when having a spinal fusion (operative management of scoliosis or kyphosis). Second, AMC patients may develop problems above and below the level of surgery and this needs to be predicted. Third, neurologic injury during surgery is much more common in AMC and must be avoided.
While each patient is individualized, as the severity of the disease varies greatly between patients, AMC can be managed and often patients can be helped to be much more independent than ever thought before.
My Approach to Larsen Syndrome is unique and requires its own discussion. Most often, infants are born with multiple dislocated joints and spinal involvement. The joints of Larsen Syndrome must be treated as young as possible in order to allow the joints to become stable and round to function. While in many conditions, we often wait until the child is a bit older, perhaps 3-6 years of age before undergoing significant management, Larsen may require relocation of joints even surgically as young as 3-6 months of age.
All joints of the upper and lower that can be reduced should be first with bracing/casting and surgically, early if necessary. Each joint dislocation must be treated independently and early in infancy. Casting and splinting is necessary and may help avoid the need for surgery on the knees, feet and even elbows. Surgery, to reconstruct and reduce joints and reconstruct ligaments may be needed. If so, when performed early enough, joints are found to develop more normally. Any spinal instability or compression must be treated at a young age as well.
Most Larsen patients should be walking and leading productive “normal” lives.
POPLITEAL PTERYGIUM SYNDROME/ESCOBAR SYNDROME
As in the treatment of AMC, Popliteal Pterygium Syndrome and Escobar Syndrome can be treated effectively without loss of motion and therefore without the use of an external fixator. As in AMC, the knee can be brought from a flexed position of more than ninety degrees to straight and maintain the motion of the knee. The hip should be treated simultaneously and released from its flexed position. This surgery often involves shortening the femur, excision of the pterygium, lengthening the skin (Z plasties) , as well as decompression and freeing of the nerves.
The spine in Escobar Syndrome can be complicated with congenital fusions of the vertebra and ribs Treatment, which often is surgical, should be performed before there is a loss of pulmonary function.