"Introducing an early program of passive stretching while the baby's tissues are still supple can help to increase their range of motion in joints that are stiff."
Arthrogryposis is a condition that has been presented through art and literature for centuries.
As various types of the condition became known, it started being used as a clinical category, which led to the condition becoming a form of description instead of a diagnosis. The word, 'Arthrogryposis,' means, 'curved joint,' which implies the joint is fixed in a curved position. Arthrogryposis Multiplex Congenita (AMC) means, 'curved joints,' in a number of areas of a person's body at the time of their birth.
Anything that prevents the common movements of a baby while they are in the womb may lead to contracture, where their joints do not have the opportunity to move with full range. The earlier this occurs in the child's development, as well as the longer there is a limitation of the child's movement, the more severe the contracture or contractures are likely to be when they are born. The condition does not involve a problem with the formation of the child's limb or joint itself; it is related to the development of extra connective tissue around the child's joint, occurring after eight to ten weeks in the pregnancy.
Extra connective tissue fixes a person's joint in place, limiting the joint's movement, leading to tendons around the affected joint and an an inability to stretch to their common length; something that makes joint movement after the child is born even harder. When limitation of movement happens over a period of several months there tends to be a lack of growth in the child's limb as well, something that can make the severity of the contracture they experience more intense.
Six issues appear to affect the development of a child's joint, causing fixation. These issues include the following.
1 - Abnormalities of Connective Tissue:
The child's bones and tendons, their joint or joint lining, may develop in a way that common movement is unable to take place while they are in the womb.
2 - Limitation of Space or Restriction of Movement Within the Uterus:
In some situations, there may be limited room inside a woman's uterus; such as may happen with multiple births. At other times there may be a lack of average levels of amniotic fluid present, or the mother may have a womb that is of abnormal shape and does not allow the child to move appropriately. Any compression has the potential to cause limitations of movement to the child, as well as secondary contractures.
3 - Abnormalities of the Muscle Structure or Function:
Also known as, 'myopathic processes,' these include a failure of muscles to form; although they may develop, yet fail to function appropriately. The cause of the condition is not currently known, but medical science suspects it may involve muscle disease such as congenital muscular dystrophies, or muscles that do not have the energy to function as they should.
4 - Abnormalities of the Nerves that Connect to the Muscles:
These abnormalities are referred to as, 'neuropathic processes,' and involve a failure of the child's nerves to form, mature, or otherwise function as they should - leading to a severe lack of movement, many times accompanied by structural conditions.
5 - Vascular Compromise Leading to Loss of Neurons:
A problem where the child's blood circulates as it should, but then fails to nourish the child's nerves that lead to bones or muscles that make up their joints.
6 - Maternal Illness:
There are a number of maternal metabolic disorders and illnesses that have been associated with the presence of AMC congenital contractures in a child.
Arthrogryposis is a relatively rare condition, occurring approximately once in every three-thousand births. There are a number of specific forms of congenital contractures in a specific body area, to include dislocated hips or clubfoot, that are far more common. Around one in every two-hundred babies are born with a form of congenital contracture, or stiff joint. The rates of congenital contractures in newborn children include:
Arthrogryposis includes more than two-hundred conditions. The conditions can be divided into one of three groups:
Distal Arthrogryposis Type I involves the person's hands and feet. With newborns, the characteristics of the disorder may be seen in their hands which are clenched, with fingers that overlap. The child's feet may also be affected, as well as their hips and knees, although the it is usually fairly mild. The disorder responds well to early physical therapy.
A, 'pterygium,' is a wing-like web, structure, or triangular membrane that forms across a person's body joint. There are several types of pterygium syndrome, although people with the conditions many times have webs of skin at their knees, elbows, neck, and experience multiple congenital contractures as well. Nerves and blood vessels run along the edge of the web, requiring a great deal of care when operating. Each of the types of pterygium syndromes has a different form of inheritance.
Freeman Sheldon Syndrome involves contractures of the person's feet and hands, as well as facial involvement. The person's muscles are contracted in a manner that presents them with a, 'whistling,' appearance. People with the more severe forms of the syndrome have mouths with particularly limited movement. Even if the person's face is not as affected, they may still have difficulties with smiling, as well as postnatal deficiency.
Distal Arthrogryposis Type II B is an autosomal dominant and common form of arthrogryposis. It has features of paralysis to all or part of the person's eye and the person's eyelids can appear, 'droopy.' The person may experience muscle weakness around their eyes and their eyes can have limited movement, particularly to the sides. The person's muscles and skin are hard and their fingers lack creases.
Distal Arthrogryposis Type II C also features cleft lip, while Distal Arthrogryposis Type II D includes scoliosis. Distal Arthrogryposis Type II E involves a characteristic positioning of the person's hand where their wrist is flexed, yet their metacarpalphalangeal joint is extended, and the person has a limited opening of their jaw. Distal Arthrogryposis Type II E is fairly common and does not run in families.
Arthrogryposis involving a newborn's central nervous system finds newborns doing very poorly and struggling to survive. Unfortunately, the condition is obvious in the first twenty-eight days (neonatal), and is not something that develops at a later time in the child's life.
No two people with arthrogryposis are alike; the condition is very diverse and people are individuals. There can be striking similarities between groups of children with the disorders however. Both Pediatricians and Doctors have difficulties with presenting an accurate picture of the futures of children with arthrogryposis. Through physiotherapy, the selective use of surgery, as well as orthosis, most children with arthrogryposis live full and active lives.
It is important for children born with arthrogryposis to receive an accurate diagnosis as soon as possible. A specific diagnosis provides information about the child's prognosis, their risk of recurrence, as well as a form of guide to medical personnel regarding the best therapies to pursue. In order to distinguish between the different types of arthrogryposis, doctors can use all of the diagnostic tools available to them. A doctor may ask questions regarding the following:
Birth history: A doctor will ask about the length of the pregnancy and labor, as well as the time and length of delivery. The doctor will ask about the positioning of the child at the time of birth, and prenatal outcome.
Family history: The child's family history is essential, particularly if there are other children in the family who are affected. A doctor will look at maternal and paternal ages, asking about close marriages in the child's family.
Prenatal history: A doctor will ask if there was any maternal fever or illness; any injury or trauma, exposure to alcohol or drugs, or medications that might cause birth defects. A doctor will also ask about the baby's movements prior to being born.
The baby will go through a series of tests with the goal of eliminating other distinct conditions. The tests can include X-rays of the child's pelvis, limbs, and spine, as well as MRI scans, a muscle biopsy, a head scan, and investigations of the child's central nervous system.
Repositioning of a child's limbs and joints through physiotherapy are highly successful. During the first three to four months of life when the contractures tend to loosen notably, some of the child's muscles that seem to be unusually weak can significantly increase in strength, while their bones often increase in both growth and mineralization. During this period of time in the child's life, their lungs continue to develop and their stomach tends to improve in regards to function.
Physiotherapy is something that can usually be started even prior to the achievement of a specific diagnosis. Introducing an early program of passive stretching while the baby's tissues are still supple can help to increase their range of motion in joints that are stiff. Many times this form of therapy is used in conjunction with splints to help the baby maintain a good position in their affected limb. The parents of the child should be instructed in the appropriate techniques, so they may continue therapy while at home and between hospital visits. The use of serial plasters and corrective surgery later in life can compliment this work and may help a child to stand and walk. Splints or calipers may be introduced when the child has reached an appropriate age.
Improving a child's hand functioning might be more difficult because there may be too little muscle to deal with and the child's anatomy may be badly affected. An occupational therapist might be able to assist. There are some operations that have provided benefits to some children, although surgery on a person's upper limbs has to be approached with caution.
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