Arthrogryposis: Causes, Picture, Symptoms and Treatment

Arthrogryposis or Arthrogryposis Multiplex (AMC) is a congenital problem leading to the development of multiple joint contractures. You can observe it in the affected child in two or more of the body. The problem develops before the birth of the baby. Now you may wonder what contracture is. It refers to the permanent fix of the joint in a straight or bent position. So, it impacts your child’s range of motions of the joint. It ultimately leads to muscle atrophy. AMC in itself is not a specific diagnosis. But, it is the visible physical symptoms that you can associate with other diverse medical conditions. So, you need to take the affected child to the doctor immediately. With proper care and management, your child can regain the motion in the joints to an extent.

What Is Arthrogryposis?

Arthrogryposis is a Greek term, which means hooking joints. It causes congenital joint curvature in your child’s body. When two or more areas have abnormal fibrosis of the muscle tissue, it results in AMC. The problem can result in short muscles. It can also prevent the flexing and extending of the affected joints. The problem occurring in just one part of the body may not come under the classification of AMC. For example, the congenital contracture in feet alone is not referred to as arthrogryposis. The problem is known as clubfoot and is only isolated congenital contracture. When the congenital contracture occurs in two or more different areas of the body, you can refer it as AMC (Arthrogryposis Multiplex Congenita) or just arthrogryposis.

Classification Of Arthrogryposis

Arthrogryposis is mainly divided into three groups based on the symptoms. So, the groups are:

Amyoplasia

It is the most common form of AMC. When a child has the condition, it causes muscle weakness and severe joint contraction. It also causes a lack of muscular development and growth in newborn. About 40% of the overall case of AMC comes under the classification of amyoplasia.

Distal Arthrogryposis

It is the inherited disease that triggers problems in the hands and feet. The joint deformities can restrict the movement in hands and feet. It is the heterogeneous group of disorder caused by a specific defective gene.

Syndromic Amyoplasia

It is the type of arthrogryposis in which the muscle disease or primary neurological problems belong to the group.

Causes Of Arthrogryposis

The decreased fetal movement in the mother’s womb can lead to arthrogryposis multiplex congenita (AMC). The fetus needs to move its limbs for developing the muscles as well as joints. If the fetus does not move in the womb, then extra connective tissue can develop around the joint. It causes the joints to fix in its place. Therefore, the fetus does not have the flexibility to move its limbs. Some of the major causes of less fetal movement in the womb are:

Malformation Of CNS

The malformation or malfunctions of the CNS (central nervous system) can reduce the fetal movement. It is the most common cause associated with AMC. So, if the fetus suffers from brain malformation, spina bifida or spinal muscular atrophy, then it can lead to AMC.

Infection

If the expectant mother suffers from an infection like German measles or rubeola during pregnancy, then it can affect the fetus. Rubella (German measles) or rubeola can adversely affect fetal health and cause arthrogryposis.

Inherited Neuromuscular Disorder

If the developing fetus inherits any type of neuromuscular disorder, then it reduces the movement in the womb. So, disorders like multiple sclerosis, myasthenia gravis, or myotonic dystrophy can lead to AMC.

Reduced Space In Womb

Too little space in the uterus for the fetus to move around can limit movements. Chronic amniotic fluid leaking or too little amniotic fluid can reduce the space for the fetus to move.

Exposure To Drugs

Maternal exposure to adverse drugs can affect a child’s health. A developing fetus cannot handle drugs like an adult. Therefore, using substances like drugs or alcohol can harm the fetus. Using phenytoin, anti-seizure medication can also result in less movement. So, exposing the unborn child to such drugs can have lasting adverse effects.

Increased Maternal Body Temperature

The rise in maternal body temperature can cause decreased fetal movement. So, if the expectant mother has a maternal fever (temperature above 39C/102.2F), then AMC can occur. Mothers who soak in the hot tubs for a prolonged period of time can also increase body temperature.

Symptoms Of Arthrogryposis

The joint contractures due to AMC can vary from one child to another. But, some common characteristics visible in a child with arthrogryposis are:

• The affected child has dislocated hips
• Muscles in the arms and legs appear weak, thin or absent
• The child has an abnormal extension of his/her elbows
• Difficulty in flexing the child’s fingers and wrists
• Deformity of legs and arms with ankles as well as wrists the most deformed (it appears like the child is locked in the fetal position inside the uterus)
• Inability to move the joints the arms and legs
• The affected child’s shoulders rotate inward
• Webbing or difference in the skin around the joints

Arthrogryposis is a complex condition that can have other issues. So, the child affected by it can have problems like:

• Facial deformities
• Abnormal curvature of the spine
• Genital deformities
• Cardiac problem
• Kidney Problems
• The difference in the formation of limbs and skull
• Skin defects
• Respiratory problems
• Complications of the nervous system

AMC is a rare condition that occurs in one child in every 10,000 births. So, if you suspect your child has the congenital condition, then seek a doctor’s assistance. The earlier intervention can manage the problem better.

Diagnosis Of Arthrogryposis

When you see the above-mentioned signs, you need to seek advice from your doctor. Arthrogryposis Multiplex Congenita (AMC) is diagnosed by the doctor with different techniques.

After Birth

So, the following methods can establish the presence of the problem in your child after birth:

Physical Assessment

You need to provide information about the medical history of your child. It will help your doctor eliminate conditions with similar signs. The physical assessment helps the doctor checks for the signs that point towards the AMC. Diverse neuromuscular issues lead to the problem. So, your doctor can find the problems in areas like the spinal cord nerves, the junction between your nerves and muscles, or the muscles as well as nerves itself. Your doctor adopts different methods to establish the problem. A careful and thorough physical examination can provide an idea to the doctor. Once the doctor suspects the problem, one or more of other tests can establish the problem.

X-Ray

The x-ray offers comprehensive images of the bones and joints.

Ultrasound

The ultrasound uses the sound waves to detect the CNS (central nervous system) as well as the other organs.

CT Scan

Computed Tomography (CT) scan helps to check the bones and their defects.

MRI Scan

Magnetic Resonance Imaging uses a magnetic field to generate high-quality images of the muscles and the central nervous system.

Muscle Biopsy

It is the diagnostic procedure that takes a sample of muscle tissue for testing. The tissue is sent to the lab for testing. So, the lab technicians can discover problems in the nervous system, muscle fibers, connective tissue, musculoskeletal system or vascular system.

Skin Biopsy

Your doctor can suggest for the skin biopsy. It can check for chromosomal abnormalities in your child.

EMG/NCV

Electromyogram and Nerve Conduction Velocity studies can offer insight into the issues causing problems in your child or adult. The studies reveal problems with the nervous system or associated muscles issues. It also reveals how fast or quickly the signals travel along the nerves and detects any complication. So, it can provide your doctor with valuable information to confirm the diagnosis.

Electrodiagnostic Testing

The electrodiagnostic physician uses the technique to gather information about the function of your nerves as well as muscles. The information can aid the doctor come to a decision about needing any additional testing necessary to make a definitive diagnosis of the problem.

Prenatal Testing

You can detect arthrogryposis with prenatal testing. The sophisticated techniques available can help determine any issue with the developing fetus before birth.

Genetic Tests

The genetic tests can offer comprehensive information about the different form of arthrogryposis your child may have. The genetic testing registry offers complete information about the necessary genetic tests needed for concluding the condition. So, you can contact your healthcare professional to know the details about the test needed to detect the problem.

Antenatal Ultrasound

The ultrasound during the pregnancy can provide your doctor with sufficient information to look into the problem in detail. The lack of fetal movement can point towards AMC. The lack of mobility and fixed contractures can cause poor muscle formation. It also leads to poor development in the affected regions. So, the antenatal ultrasound can show evidence of contractures like:

• Clenched hands
• Abnormal limb positioning
• Knotted fingers
• Persistently bent legs
• Clubbed Feet
• Persistently extended legs
• Scoliosis

Treatment of Arthrogryposis

You have to understand that the congenital problem has no cure. The treatment option available currently can manage specific symptoms the child suffers. The different noninvasive and invasive therapies focus on improving the quality of life. So, early intervention can help your child manage the problem better. Therefore, the following options are available for improving the symptoms associated with arthrogryposis:

Nonsurgical Care

The noninvasive care options focus on enhancing your child’s joint movements as normally as possible. It will improve the flexibility of the joints and its strength. The therapy can line the bones properly and enable better movement. The therapies focus on the upper as well as lower bodies. The upper body therapy works on the hands and arms. So, the child can perform their everyday tasks better with better hand movements. While the lower body therapy works on improving the flexibility and strength of feet and legs. Therefore, the child can stand and walk better. The following therapies can build your child’s skills and perform a lot better:

Physical Therapy

The rigorous physical therapy can help stretch the contracted joints of the affected child. It can also improve muscle development and strengthen them. The therapy is tailored to meet the individual needs of your child. If you start the therapy at an early stage, then your child can do a lot themselves. The team of caregivers and parents can play a significant role in offering the therapy at home. You can develop activities that will help your child improve their skills at home. While physical therapists can develop exercises and stretches that will increase your child’s muscle strength and range of motion. So, your child can experience improved mobility. The physical therapists improve the gross motor skills of the child by working with them. So, trained professionals find different methods for your child to

• Crawl
• Sit
• Roll
• Stand
• Walk

They also use assistive devices like a wheelchair to help your child with better mobility. So, your child can learn to use them and improve their movement.

Occupational Therapy

Occupational therapists can assess and develop methods for your child to maintain everyday activities. So, the therapist teaches your child the skills that will aid in taking care of themselves. It includes the following:

• Teach the child how to eat or dress
• The methods to move around (using crutches to move around or getting out of a chair)
• Help develop fine motor skills (like writing)
• They also work with your child to develop fine motor skills, such as writing.

Adaptive Devices

Your child’s physical therapist and occupational therapist can use adaptive devices like casts and splints for providing rigid support. It will hold the joint in its place. The adaptive devices can aid in lining up the bones for better movement. It also keeps the joints stretched. So, the splints (it can stretch the joints at night) and casts can prevent or improve contractures. With the progress of the child, they may require different splints as well as casts.

Children can go through several splints and casts as their range of motion changes. So, you need to learn from the team of doctors about how to work with the splints and casts during everyday activities. It is due to the fact that it helps to optimize the movements while they get dressed or during therapy exercises.

Other Types Of Care

Every child suffering from arthrogryposis has different signs and symptoms. Therefore, the care must meet the needs of the child specifically. The following care can help children suffering from other problems due to AMC:

Speech Therapy

This can help them learn to speak more clearly if their muscles used for speech are weak or if the feeling in their mouth is not typical.

Tracheotomy

Some children find it difficult to eat or breathe due to the throat, mouth or jaw. Therefore, the child requires a tracheotomy or a gastrostomy tube to make it easier for breathing and eating.

Adequate Nutrition

Some children may not get enough nutrition. Therefore, the family must focus on working with a dietitian to offer necessary nutrition to meet the child’s needs. The dietician can develop a complete meal plan that will satisfy the nutritional needs of your child.

Ongoing Care

Infants, children, and young adults who are still undergoing physical development need care as per their specific needs. So, the care required by them may differ from that of the adults. It is due to the fact you need to take into account their growth plates. A specialist team of doctors can offer the affected people with medication, invasive therapy, emotional, and social requirements of young people. When people grow, their soft tissue, tendons, and muscles around the joint region may not attain the length at the same rate. It can lead to the contractures to return. So, the child requires frequent therapy to deal with the issue as they grow.

Surgical Care

In some cases, the specialist team of doctors recommends surgery to solve the issues. It is mostly suggested by the team after the child shows improvement after undergoing physical as well as occupational therapy. It is opted by the doctor when the child becomes older. But, based on the specific needs of the child, your doctor can opt for it as per requirement. The need for surgery is determined after undergoing imaging tests like CT scan or ultrasound. The sophisticated imaging techniques can detect heart defects and abnormalities in the central nervous system. So, when the child needs repair of the significant organs, your doctor can suggest it. In most cases, the orthopedic surgery correct or relives the joint problems affecting your child.

Conclusion

You need to understand the problem has no permanent cure. But, with effective therapy, you can manage the condition better. The outlook of the problem depends entirely on the severity of the condition and the effects of therapy. In most of the cases, people affected by arthrogryposis have a normal lifespan. But, issues like central nervous system problem or heart defects can alter the quantity of life. Children suffering from the issue can lead to a normal life after undergoing intensive therapy. They need therapy for years, but they can manage to live normally with the assistance of supportive devices and therapy.

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