Hip joint reconstruction
Arthrogryposis (AMC), also known as amyoplasia or arthrogryposis multiplex congenita (AMC), is a condition that affects the spine and multiple joints, including the hips, knees, ankles, shoulders, elbows, and hands. Escobar syndrome, a subtype of arthrogryposis, is characterized by skin webbing at the joints (pterygium).
The severity of arthrogryposis varies among individuals, and treatment options such as physical therapy, casting, or surgery are tailored to the specific cause and severity. Early intervention often leads to positive outcomes, with children gradually improving joint mobility over time.
Present at birth, arthrogryposis occurs in about 1 in 10,000 live births. It results in joint contractures due to malformed or stiff joints, muscles, and tendons, limiting mobility in affected areas. While cognitive function remains unaffected, associated conditions like scoliosis may occur.
Diagnosis is crucial for appropriate treatment selection, utilizing methods such as MRI, muscle biopsies, blood tests, DNA testing, and observations. Arthrogryposis encompasses joint contractures and muscle weakness present before birth, affecting multiple body areas.
Arthrogryposis translates to “stiff joints”, with its cause often unknown. Arthrogryposis multiplex congenita (AMC) refers to cases where two or more body parts are affected. Genetic forms like Escobar Syndrome and Popliteal Pterygium Syndrome are distinct from AMC and require specific consideration and treatment approaches. Other genetic conditions, such as Larsen Syndrome and RYR1 Mutations, will be addressed separately.
At the Paley European Institute, our approach to treating arthrogryposis focuses on enhancing joint mobility and function, particularly in the lower extremities, including the hip, knee, ankle, and foot. We avoid procedures that decrease range of motion, such as external fixators, and address spine involvement without compromising function.
Arthrogryposis treatment demands a high level of expertise from physicians, surgeons, and allied health professionals familiar with the disease. Over the past six years, we’ve made significant advancements in hip, knee, and foot treatment, often combining surgery with physical therapy for optimal outcomes.
Our approach to stiff knees aims to increase flexibility while maintaining the ability to fully straighten. Muscle transfers in the upper extremities enable functional movements like elbow flexion and hand-to-mouth actions, enhancing independence.
Management of scoliosis and kyphosis in arthrogryposis patients requires careful consideration to preserve sitting and standing abilities and avoid neurological injury during surgery.
Our comprehensive approach also addresses conditions like Larsen’s Disease and Escobar Syndrome, tailoring interventions to individual patient needs.
Collaborating with a multidisciplinary team, including physical therapists, occupational therapists, and child life specialists, ensures holistic care for patients and families. Our comprehensive care approach offers hope for improved function and quality of life, providing support and resources where they’re needed most.
Arthrogryposis Multiplex Congenita (AMC) is a condition with an unknown cause, often appearing normal upon genetic testing. Whether it stems from fetal tissue migration issues or viral impacts during pregnancy, no treatment or prevention methods are currently known.
Diagnosing AMC involves genetic testing and potentially MRI scans of the brain and spinal cord to rule out known causes and conditions.
Due to its rarity, few medical professionals have the expertise to treat AMC effectively. Treatment requires a multidisciplinary team with extensive experience in managing arthrogryposis.
Surgical intervention for AMC should only be considered if it can significantly improve the child’s quality of life. A thorough assessment of muscle strength, realistic goal setting, and collaboration with experienced professionals are essential for achieving optimal functional outcomes and avoiding unnecessary surgeries.
At the Paley Institute, we have significantly improved treating AMC over the past four years, particularly in addressing hip, knee, and foot issues. Our approach aims to enhance range of motion and flexibility without increasing stiffness, allowing for improved mobility and functionality.
Surgical techniques, such as loosening joint capsules and transferring muscles, enable active elbow flexion and hand movements, promoting independence in daily activities like eating and writing.
Management of spinal conditions like scoliosis and kyphosis in AMC patients requires careful consideration to maintain sitting and standing abilities and prevent neurological injury during surgery.
Despite the varying severity of AMC among patients, individualized treatment plans can significantly improve independence and quality of life.
Trust in the Paley European Institute to provide exceptional care and help you live life to your fullest potential.