Arthrogryposis - Causes, symptoms and treatment

Arthrogryposis is a congenital disorder that involves multi-joint muscle contractures, joint stiffness and osteoarticular deformities. The condition has various etiologies and, unfortunately, cannot be prevented or guarded against. However, in the case of arthrogryposis, the symptoms can be effectively reduced, by choosing the right treatment, physiotherapy and rehabilitation. In this article we will tell you: arthrogryposis - what it is, its causes and symptoms. We will also explain how to help patients become more fit. Fortunately, the possibilities are many, and the results of treatment can be spectacular. As proven by the stories of Paley Institute Patients.

Arthrogryposis - what is it?

The incidence of arthrogryposis is estimated at 1 in 10000 newborns born, and it usually affects both sexes equally. Such a wide spectrum of problems experienced by patients with arthrogryposis as well as the rarity of the disease means that there are few centers offering proper treatment. Achieving improvement requires a great deal of experience and individualized treatment planning for each patient. Arthrogryposis is a disease that can be diagnosed as early as during prenatal examinations (ultrasound), which allows the hospital to prepare appropriately for delivery. Full diagnosis is made immediately after birth. Arthrogryposis in a newborn is primarily:

• high muscle tension,
• Flexion positioning of the knees and hips,
• Congenital joint stiffness,
• Unnatural positioning of the wrists and fingers.

Arthrogryposis in children

It means big problems in learning to move around. Performing daily activities is hampered, resulting in a reduced quality of life for the child. Specialized equipment and appropriate orthopedic supplies (such as shoes without lacing or specially adapted cutlery) become necessary. In most cases , however, arthrogryposis does not directly affect a child's life expectancy or cognitive skills. Therefore, it is extremely important to start treatment and rehabilitation as early as possible.

Causes of arthrogryposis

The causes of arthrogryposis are varied. In most cases, arthrogryposis is not caused by genetic factors, but in about 30% of cases such a factor can be identified. Neurological conditions, resulting from abnormal function of the central (CNS) or peripheral nervous system, are also cited as reasons. And disorders of muscle structure or function.

Arthrogryposis and pregnancy

Another reason for arthrogryposis is a decrease in fetal motor activity during pregnancy. This is because the lack of movement does not allow the development of periarticular tissues, increased connective tissue and muscle atrophy appear. Proper fetal development can also be interfered with by drugs, alcohol, or other substances supplied to the body by the mother during pregnancy, as well as infections.

Symptoms of arthrogryposis

Arthrogryposis in adults and children can take different forms:

- Classical arthrogryposis involves the joints of all limbs,
- distal arthrogryposis involves the hands and feet,
- fetlock syndromes mean joint contractures of the knees, elbows and other joints and parts of the body,
- synostosis syndromes are characterized by fusion of joints, such as the knees, leading to an inability to bend the joint.

Depending on the type of arthrogryposis, different treatments are used: surgery or physiotherapy.

Arthrogryposis in children

Arthrogryposis in children means big problems in learning to move. Performing daily activities is hampered, resulting in a reduced quality of life for the child. Specialized equipment and appropriate orthopedic supplies (such as shoes without lacing or specially adapted cutlery) become necessary. In most cases , however, arthrogryposis does not directly affect a child's life expectancy or cognitive skills. Therefore, it is extremely important that in the case of arthrogryposis, treatment and rehabilitation should begin as early as possible.

Causes of arthrogryposis

Arthrogryposis is caused by a variety of factors. In most cases, arthrogryposis is not caused by genetic factors, but in about 30% of cases such a factor can be identified.Neurological conditions, resulting from abnormal function of the central (CNS) or peripheral nervous system, are also cited as causes. And disorders of muscle structure or function.

Most often, joint contracture and stiffness are caused by: underdevelopment or complete absence of muscles in a particular location, abnormalities of muscle motor innervation, intrauterine positioning or intrauterine viral infection. Other, causes of arthrogryposis can be direct joint deformities, as well as connective tissue defects.

Arthrogryposis and pregnancy

Another reason for arthrogryposis is a decrease in fetal motor activity during pregnancy. This is because the lack of movement does not allow the development of periarticular tissues, increased connective tissue and muscle atrophy appear. Proper fetal development can also be interfered with by drugs, alcohol, or other substances supplied to the body by the mother during pregnancy, as well as infections.

Symptoms of arthrogryposis

Arthrogryposis in adults and children can take different forms:

• Classic arthrogryposis involves the joints of all limbs,
• Distal arthrogryposis occupies the hands and feet,
• Flippancy syndromes mean joint contractures of the knees, elbows and other joints and parts of the body,
• Synostosis syndromes are characterized by the fusion of joints, such as the knee, which leads to the inability to bend the joint.

Depending on the type of arthrogryposis, different treatments are used : surgery or physiotherapy.

Types of arthrogryposis

It may be that the condition affects a small number of joints and organs (the "loose" type). In that case, the treatment prognosis is good. Adults with this type of arthrogryposis have little difficulty walking. Conservative treatment, physiotherapy and rehabilitation are used, which can effectively improve joint function.

In contrast, the so-called "rigid" type of arthrogryposis is associated with a small range of motion in the joints. We have to deal with foot deformities (clubfoot) and dislocation of the knee and hip joints. Then surgical treatment is necessary, and only then conservative treatment.

Treatment of arthrogryposis

Treatment of arthrogryposis is a long and complex process. Each time, it requires the development of an individual plan with the cooperation of many specialists: orthopedic doctors, surgeons, anesthesiologists, physical therapists and physiotherapists. In this way, the best possible treatment results can be achieved, with the goal of achieving joint mobility and improving function.

In the case of arthrogryposis, treatment should be undertaken under the condition of bringing real benefit to the patient' s health and functioning.

Orthopedic surgeries are often necessary. These include:

• Bone osteotomy and osteoplasty,
• joint reconstruction,
• tendon elongation,
• Nerve release, or bone stabilization with an LCP plate.

The above-mentioned treatments (and many others) have been performed for years at the Paley Institute by experienced specialists.

Conservative treatment

Physiotherapy

In some cases, it is possible to partially correct ailments with physiotherapy alone. At the Paley Institute, the initial evaluation and treatment of the child is undertaken by experienced physical therapists.

In newborns, in whom the disease usually manifests itself with increased contractures, which can present as excessive hip flexion or a clubfoot, rehabilitation can provide significant benefits in the first six months of a child's life by working on daily activities.

Plastering

Plastering and the use of splints is the first choice in the treatment of wrist, hand and clubfoot , and is often the only treatment required for correction.

Psychosocial and Emotional Therapy (psychological care).

Any physical limitation can affect a child's self-perception, so all children who have intensive treatment require strong support as they grow up. Joint activities and meetings between families and experienced psychologists will allow them to deal with the difficulties of treatment together, help solve problems and deepen family relationships, which has a huge impact on the well-being and treatment of children.

Surgical treatment

Soft tissue release

Contractures are caused by shortening or entrapment of soft tissues, which limits full mobility in the joints. During tissue release, contractures are reduced by widening the space within the compressed tissues.

Tendon transfer

The tendon is the structure that connects muscle to bone, holds the limb in position and plays a significant role in movement. When necessary, with muscle failure, atrophy and lack of movement of the limb, the so-called tendon transfer is used. It involves changing the location of the tendon's attachment from its physiological position to a place where its presence will bring improved function to the limb.

Osteotomy

Bone curvature can be treated with plastering in young Patients whose skeletal system is amenable to such treatment. For complex deformities and in older Patients, an osteotomy procedure is performed. It involves the controlled breaking of the bone and setting it in the correct position and alignment. The bone is then stabilized on a wire, plate or external apparatus, depending on the location and extent of the procedure, which ensures stabilization and allows for proper bone fusion.

External cameras

External braces (e.g., Taylor SPatial Frame, Ilizarov Frame) consist of adjustable steel discs and rods that are anchored to the bone, providing stabilization through pins and special struts.

Growth Modulation

Growth cartilage is the part of cartilage located near the base of long bones (e.g. femur, humerus, tibia) that causes bones to grow in length. It is present in children and adolescents. Thanks to minimally invasive interference in the cartilage area, it is possible to correct the limb axis by blocking the cartilage with an 8-shaped metal plate (the so-called 8 plate). Another application of the described method is the correction of a slight difference in limb length.

Rehabilitation and physiotherapy

In addition, regular, long-term rehabilitation is extremely important in the treatment of arthrogryposis. Studies have shown that physiotherapy for a child with arthrogryposis started before 1 year of age reduces the likelihood that the deformity will worsen and can reduce the need for repeated corrective procedures. Recommended therapies include:

• Exercises according to the NDT Bobath concept, the Vojta method or MAES,
• Procedures using heat therapy, hydrotherapy, electrotherapy (e.g., galvanization),
• Manual methods and plastering.

How do we treat arthrogryposis?

At Paley European Institute, we are dedicated to the diagnosis of arthrogryposis and its treatment. Among other things, we perform joint release procedures, corrective osteotomies of the tibia and femur, hip reconstruction, knee and foot reconstructions, and upper limb reconstruction. We also offer rehabilitation for arthrogryposis. We also provide care from an experienced team of physiotherapists, orthotists and a psychologist.

You already know: arthrogryposis: what it is and what treatment is recommended, now all you have to do is contact us and we will take care of the rest! Pediatric orthopedics is our specialty!

Effects of treatment at the Paley Institute

Little patients Arabella and Philip talk about the effects of arthropogryposis treatment. The children have undergone comprehensive surgical and conservative treatment, thanks to which they have gained joint mobility and the ability to move properly. They are getting more and more confident on their feet and can enjoy daily activities.