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Arthrogryposis

Arthrogryposis refers to the condition in which a person’s joints are curved. The condition, which is medically referred to as Arthrogryposis Multiple Congenita (AMC), is present at birth but can be detected even before birth through ultrasound. People suffering from this condition have joint contractures evident in different parts of the body and experience muscle weakness along with restricted or total joint immobility.

The objective of the treatment for arthrogryposis is to help sufferers live with the condition and improve their overall quality of life. The treatment is designed individually because each patient has different manifestations and severity of condition. Treating the condition often involves a combination of surgery and therapy.

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How common is Arthrogryposis?

AMC rarely occurs, affecting only 1 child in every 3,000 births. The condition comes in different forms and there is no racial or ethnic predisposition. Studies also showed that AMC is more prevalent in secluded populations like Israel’s Bedouin Community and Finland. Based on statistics, around 1 child out of 200 births suffer from stiff joint and 1 out of 3,000 have multiple contractures. Around 1 child in every 2,000 to 5,000 suffers from dislocated hips and 1 in 5,000 has clubfoot.

Arthrogryposis is composed of over 200 conditions and is divided into three groups depending on the area affected. The first group encompasses disorders primarily affecting the limbs, like the arms and legs. The second group involves those affecting the limbs and other parts of the body, while the third group covers the limbs and the central nervous system.

Arthrogryposis  causes

AMC primarily occurs when a child’s joints are curved due to restricted movement while inside the mother’s womb. Fetal movement helps in the development of the baby’s joints and muscles. Restriction of fetal movement results in the development and fixation of connective tissues around the joints. The severity of joint contracture depends on the duration of restriction of fetal movement inside the womb.

There are several reasons why arthrogryposis occurs, and these are:

  • Abnormal connective tissue

This is often the cause of AMC wherein the child has a spare connective tissue in his joint. This often happens during the 8th to 10th week of pregnancy. AMC may arise due to a problematic connective tissue which does not develop to facilitate natural fetal movement.

  • Maternal illnesses

Certain illnesses suffered by the mother during pregnancy have been associated with the occurrence of congenital contractures. German measles during pregnancy is one of them. Fever during pregnancy that reached above 39 degrees Celsius for an extended period of time has been associated to AMC as well. Exposure to harmful substances like alcohol, phenytoin and drugs while pregnant can affect normal fetal development and could result in AMC.

  • Compression inside the uterus

Compression inside the uterus such as in the case of multiple births and insufficient amniotic fluid may restrict the fetus from moving properly. An abnormally-shaped uterus could also be the reason for compression in the uterus which restricts the fetus from moving.

  • Abnormal muscle structure

This occurs when the muscles fail to develop and function properly. Experts do not know its exact cause but believe that some kind of muscle disorder make this happen.

  • Loss of neurons

Loss of neurons take place when the nerves do not receive proper nourishment from the blood despite normal blood circulation. The affected nerves are the ones connected to the muscles or bones.

  • Nerve problems

Nerves may fail to form, mature or function properly resulting in loss of movement.

What happens to people suffering from Arthrogryposis?

AMC is manifested in variety of ways and differs in every patient. However, some patients may share some common features which include:

  • Dislocated hips
  • Restricted joint movement and muscle weakness
  • Curved arms and legs most especially the wrists and ankles
  • Total joint immobility
  • Facial deformities and curved spine

Language and cognition is generally normal among those afflicted by the condition. However, certain complications may occur, like scoliosis, mid-facial hemangioma, hernias, growth retardation, lung hypoplasia and respiratory problems. Meanwhile, the life expectancy largely depends on the severity of AMC, but oftentimes this is normal. However, normal life expectancy may be shortened with the presence of medical problems like heart defects and central nervous system dysfunction.

Arthrogryposis  Diagnosis and Treatment

Accurate diagnosis is extremely important to improve the prognosis of a child with AMC and improve his/her overall quality of life. The doctor will conduct a thorough assessment and use the available diagnostic tools to determine the specific type of AMC the child has. He/she will check the child’s family, prenatal and birth history. The child may be subjected to X-rays, MRI scans, head scan and muscle biopsy to rule out other conditions.

Arthrogryposis is incurable although several things can be done to improve the condition. Treatment is primarily aimed towards preventing secondary complications from occurring, thus improving the overall quality of life of the patient. People suffering from arthrogryposis may undergo physical and occupational therapy. Surgery may also be an option to fix joint problems.

Arthrogryposis Pictures


 

 

 

 

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