Do you know?Parents,about a rare disease called arthrogryposis multiplex congenita commonly abbreviated as AMC? AMC is a congenital disease that occurs due to genetic abnormalities .
AMC can cause the muscles around the joints to become thin, weak, stiff or misshapen during pregnancy. And extra tissue may build up around the joints, causing your baby’s joints to become stuck.
According to the Rare Disease website , about 1 in 3,000 babies are born with arthrogryposis. This condition can be inherited from both parents.
To learn more about arthrogryposis multiplex congenita, let’s look at the following article.
Getting to Know What Arthrogryposis Multiplex Congenita Is
Arthrogryposis means a disorder when a child is born with joint contractures. Contractures are congenital disorders that cause permanent tightening of your baby’s muscles, skin, and tendons, causing their joints to become short and stiff.
When arthrogryposis affects two or more different areas of the body, it may be referred to as arthrogryposis multiplex congenita (AMC). “Arthrogryposis” means curved or bent joints. “Multiplex” means more than 1 joint is affected, and “Congenita” means the condition is present at birth.
The joints are sometimes underdeveloped, such as thin, fragile, stiff, or even absent muscles. This congenital disorder causes the joints to be immobile as a result of the accumulation of extra tissue growing around them.
Symptom
Symptoms of arthrogryposis multiplex congenita are present at birth (congenital). However, the specific symptoms and physical findings can vary greatly in severity from one person to another, even within families.
This means that AMC can affect several joints, and these joints have the same movement as normal joints. In other children, the condition can be more serious and limit their movement.
Artharogryposis multiplex congenita occurs randomly, for no apparent reason (sporadic).
In extreme cases, arthrogryposis affects nearly every joint.
As reported on the Cleveland Clinic website , babies with arthrogryposis are born with several characteristics, including:
- The slanted shoulders rotate towards the center of their body.
- Longer elbows
- Curved wrist and fingers
- Dislocated hip
- Longer knees
- Feet pointing down and in
- Their spines curve to the side
Reason
The cause of arthrogryposis multiplex congenita depends on the specific type. For many types, the cause is not fully understood. Arthrogryposis or AMC is not a specific diagnosis, but a physical finding that can be associated with a variety of disorders and conditions.
According to the Rare Disease and Cleveland Clinic websites , the most common possible causes of arthrogryposis include:
Fetal akinesia is a condition where the fetus does not move normally while in the womb.
In theory, fetal akinesia is the main cause of arthrogryposis. Early in pregnancy, the baby’s movements can help the development of their joints, muscles, and tendons.
The primary underlying mechanism causing congenital contractures is believed to be decreased fetal movement during development. Joints begin to develop in the fetus about five or six weeks into pregnancy.
Oligohydramnios is a low level of amniotic fluid around the fetus, it has also been associated with decreased fetal movement.
Limited movement of the baby can be caused by insufficient amniotic fluid , or it can also be due to carrying twins in the womb or an unusually shaped uterus.
If your baby can’t move his joints, excess tissue will form around the joints.
AMC can be caused by a maternal disorder such as multiple sclerosis. The risk of multiple sclerosis can increase if someone in your family has it.
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Muscular Dystrophy Disorder
The cause of AMC can be due to genetic disorders such as muscular dystrophy, which is a group of diseases that cause muscles to become weak and lose density and function rapidly.
AMC can be associated with certain muscle disorders including muscular dystrophy, certain mitochondrial disorders and various genetic muscle disorders present at birth (congenital myopathies). Such disorders are usually inherited.
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Central Nervous System Disorders
Some cases of arthrogryposis multiplex congenita may occur due to abnormalities or disorders associated with improper development of the central nervous system or peripheral nervous system or as part of an intrinsic muscle disorder.
Diseases of your central nervous system, including Moebius syndrome and spina bifida (meningomyelocele).
The cause of AMC is a neuromuscular disorder, which is a medical condition characterized by the inability of the nervous and muscular systems to function as they should.
Diseases of the neuromuscular system, including myasthenia gravis.
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Connective Tissue Disorders
Connective tissue is the material between the body’s cells that gives the tissue its shape and strength.
AMC can also occur as part of certain connective tissue disorders, including dysplasia and metatropic dwarfism .
Abnormal development of connective tissue in the joints can restrict fetal movement, potentially leading to multiple contractures.
Some cases of arthrogryposis multiplex congenita occur as part of a rare inherited genetic disorder.
AMC can occur as part of certain single gene disorders that can be inherited as an autosomal recessive, autosomal dominant or X-linked trait.
AMC can also occur as part of a chromosomal abnormality (eg, trisomy 18, multiple microdeletions and microduplications ), reports the Rare Disease website .
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Combination of Genetic and Environmental Problems
Some cases of AMC are associated with multiple factors including genetic and environmental factors (multifactorial inheritance). Most cases of this disorder develop due to multiple factors including genetic and environmental factors (multifactorial inheritance).
Frequency of Occurrence
AMC is approximately equal in number for men and women. The condition is most commonly reported in individuals of Asian, African and European descent.
The incidence of amyoplasia occurs in 1 in every 10,000 live births, reported on the Nationwide Children website .
Isolated congenital contractures affect approximately 1 in 500 individuals in the general population. Arthrogryposis is a rare disorder that occurs in 1 in every 3,000 live births. AMC, by definition, is present at birth (congenital), according to the Rare Disease website .
Risk Factors
The abnormal gene may be inherited from one parent, or it may be the result of a new mutation (gene change) only in the affected individual.
The risk of passing the abnormal gene from an affected parent to their offspring is 50 percent for each pregnancy. The risk is the same for men and women.
Diagnosis
Most contractures occur in the arms and legs. They can also occur in the jaw and spine.
The diagnosis of AMC is made based on identification of characteristic symptoms (e.g., multiple congenital contractures), a detailed patient history, and a thorough clinical evaluation.
As reported on the Rare Disease website , certain tests may be needed to determine the underlying cause of AMC including nerve conduction, electromyography and muscle biopsy, which can help diagnose neuropathic or myopathic disorders .
As reported on the NCBI website , to get more information, children may need to do tests, such as:
- X-rays to check their bones and joints
- Ultrasonography to examine the CNS and their organs
- CT (computed tomography) to scan their bones
- MRI (magnetic resonance imaging) to scan their CNS or muscles
- Muscle biopsy to check if their muscle fibers are normal
- A skin biopsy or blood test to check their chromosomes for abnormalities
- Electromyogram and nerve conduction velocity (EMG/NCV) studies are done to see if a problem with their nervous system or muscles is the cause and to see how fast signals are moving along their nerves.
- Genetic testing can tell your doctor more about some forms of arthrogryposis, so your child’s team may suggest this test as well.
Prenatal diagnosis
The examination can be done while the baby is still in the womb using an ultrasound. Based on what they observe during the ultrasound, doctors can sometimes make a diagnosis of arthrogryposis.
If this happens, talk to your healthcare team about what they can tell you from the ultrasound and what you can do to help.
Handling
The main goal of treatment for arthrogryposis is to help your child’s joints move normally. Treatment is to improve their flexibility, strength and alignment of their bones.
Therapy
Physical therapy and occupational therapy are the main treatments for arthrogryposis. Your child’s therapy will be tailored to their needs and abilities.
Some families work with a dietitian to ensure their child is getting good nutrition. The pediatric team will create a comprehensive plan based on the child’s needs.
Surgery for Arthrogryposis
Your child’s team may also recommend surgery. It is often done when the child is older. However, it can be done at any age based on what your child needs.
As reported on the NCBI page , types of surgery for arthrogryposis include:
- Surgery to cut into or through the bone (osteotomy) to improve the joint. The surgeon can shorten or lengthen the bone or even change its position.
- Surgery to lengthen or release muscles or tendons that prevent joints from moving properly.
- Surgery to cut through the joint capsule (capsulotomy), if the capsule restricts movement.
Surgery may be performed for scoliosis as well as clubfoot or hip dysplasia.
Possible Complications
Children with arthrogryposis may have other health problems, such as problems with their nervous system, muscles, heart, kidneys or other organs, or differences in how their limbs, skull or face are formed.
Some children need speech therapy, to help them learn to speak more clearly if their speech muscles are weak.
Some children need a gastrostomy or tracheostomy tube if they have jaw, mouth or throat problems that make it difficult for them to eat or breathe.
Prevention
Currently, there is no known way to prevent arthrogryposis multiplex congenita .
Fetal movement in the womb is essential for proper fetal joint development. Lack of fetal movement allows excess connective tissue to form around the joints, which can cause the joints to become stiff and/or restrict joint movement.
Limited fetal movement can also occur due to maternal disorders including viral infections, drug use, trauma or other maternal illnesses.
Parentsshould avoid potentially dangerous activities that can cause fetal deformities. That isParentsInformation related to arthrogryposis multiplex congenita that we can observe, hopefully useful.
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Republished with permission from theAsianParent Indonesia
